Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.P262Q

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
8 papers
NM_130760.3
p.P262Q
c.785C>A
Surrounding Variants
1 paper
NM_130760.3
p.P262fs
c.784_785fs
1 paper
NM_130760.3
p.P264S
c.790C>T
1 paper
NM_130760.3
p.T259T
c.777C>G
1 paper
NM_130760.3
p.T259N
c.776C>A
1 paper
NM_130760.3
p.D258N
c.772G>A
4 papers
NM_130760.3
p.K267T
c.800A>C
1 paper
NM_130760.3
p.K267delins
c.800_801delinsCC
1 paper
NM_130760.3
p.P257T
c.769C>A
3 papers
NM_130760.3
p.K267N
c.801G>C
2 papers
NM_130760.3
p.K267N
c.801G>T
1 paper
NM_130760.3
p.P256ins16
c.766_767ins48
1 paper
NM_130760.3
p.P256S
c.766C>T
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