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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MADCAM1

MADCAM1

113 papers

RefSeq Summary

The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on m...

Pfam Domains

Adhes-Ig_likeaa 113–224UCSCAdhesion molecule, immunoglobulin-like

Gene Aliases

HGNC Name

mucosal vascular addressin cell adhesion molecule 1

HGNC Alias Symbol

MACAM1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 92 variants

11 papers

chr19:501743 T>TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC

NM_130760.3

p.S248ins16

c.742_743ins48

Exome: 46.0% (AC=339904, hom=125193)Genome: 62.9% (AC=48656, hom=16761)10 overlapping SVs

10 papers

chr19:501714 C>A

NM_130760.3

p.P238Q

c.713C>A

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=14, hom=0)10 overlapping SVs

10 papers

chr19:501738 C>A

NM_130760.3

p.P246Q

c.737C>A

Exome: 3.0% (AC=21585, hom=848)Genome: 9.8% (AC=3728, hom=171)10 overlapping SVs

9 papers

chr19:501701 G>A

NM_130760.3

p.D234N

c.700G>A

Exome: 4.5% (AC=49745, hom=5603)Genome: 0.4% (AC=490, hom=4)10 overlapping SVs

8 papers

chr19:501786 C>A

NM_130760.3

p.P262Q

c.785C>A

Exome: 5.9% (AC=39585, hom=13)Genome: 6.5% (AC=1073, hom=1)9 overlapping SVs

7 papers

chr19:501743 T>C

NM_130760.3

p.S248P

c.742T>C

Exome: 5.8% (AC=42466, hom=2682)Genome: 12.9% (AC=10072, hom=1907)10 overlapping SVs

6 papers

chr19:501725 G>A

NM_130760.3

p.D242N

c.724G>A

Exome: 5.9% (AC=58757, hom=41)Genome: 3.0% (AC=1876, hom=20)10 overlapping SVs

6 papers

chr19:501762 A>C

NM_130760.3

p.Q254P

c.761A>C

Exome: 0.2% (AC=2547, hom=0)Genome: 0.2% (AC=95, hom=0)10 overlapping SVs

5 papers

chr19:501701 G>GACACCACCTCCCCGGAGCCTCCCA

NM_130760.3

p.D234ins8

c.700_701ins24

Exome: 22.4% (AC=255180, hom=51538)Genome: 27.5% (AC=36755, hom=5441)10 overlapping SVs

5 papers

chr19:501719 T>C

NM_130760.3

p.S240P

c.718T>C

Exome: 13.1% (AC=104672, hom=1403)Genome: 11.8% (AC=5706, hom=140)10 overlapping SVs

4 papers

chr19:501695 C>T

NM_130760.3

p.P232S

c.694C>T

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=9, hom=0)10 overlapping SVs

4 papers

chr19:501801 A>C

NM_130760.3

p.K267T

c.800A>C

Exome: 0.2% (AC=2158, hom=1)Genome: 2.6% (AC=465, hom=0)9 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."