Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.Q254P

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
6 papers
NM_130760.3
p.Q254P
c.761A>C
Surrounding Variants
1 paper
NM_130760.3
p.S253fs
c.757_758fs
1 paper
NM_130760.3
p.P256ins16
c.766_767ins48
1 paper
NM_130760.3
p.P256S
c.766C>T
1 paper
NM_130760.3
p.P262insFs
c.784_785ins47
1 paper
NM_130760.3
p.P257T
c.769C>A
1 paper
NM_130760.3
p.D258N
c.772G>A
1 paper
NM_130760.3
p.D250N
c.748G>A
1 paper
NM_130760.3
p.T259N
c.776C>A
1 paper
NM_130760.3
p.P249fs
c.745_746fs
1 paper
NM_130760.3
p.T259T
c.777C>G
7 papers
NM_130760.3
p.S248P
c.742T>C
1 paper
NM_130760.3
p.S248delins
c.742delinsCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC
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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."