Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.S240fs

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130760.3
p.S240fs
c.718_719fs
Surrounding Variants
5 papers
NM_130760.3
p.S240P
c.718T>C
10 papers
NM_130760.3
p.P238Q
c.713C>A
6 papers
NM_130760.3
p.D242N
c.724G>A
1 paper
NM_130760.3
p.P246insFs
c.736_737ins5
1 paper
NM_130760.3
p.P246fs
c.736_737fs
9 papers
NM_130760.3
p.D234N
c.700G>A
1 paper
NM_130760.3
p.D234ins8
c.700_701ins24
5 papers
NM_130760.3
p.D234ins8
c.700_701ins24
2 papers
NM_130760.3
p.D234fs
c.700_701fs
10 papers
NM_130760.3
p.P246Q
c.737C>A
1 paper
NM_130760.3
p.P246insFs
c.737_738ins19
2 papers
NM_130760.3
p.P232_P233insFs
c.696_697ins14
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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."