Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.D242N

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.D242N
c.724G>A
Surrounding Variants
5 papers
NM_130760.3
p.S240P
c.718T>C
1 paper
NM_130760.3
p.S240fs
c.718_719fs
10 papers
NM_130760.3
p.P238Q
c.713C>A
1 paper
NM_130760.3
p.P246insFs
c.736_737ins5
1 paper
NM_130760.3
p.P246fs
c.736_737fs
10 papers
NM_130760.3
p.P246Q
c.737C>A
1 paper
NM_130760.3
p.P246insFs
c.737_738ins19
7 papers
NM_130760.3
p.S248P
c.742T>C
1 paper
NM_130760.3
p.S248delins
c.742delinsCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC
1 paper
NM_130760.3
p.S248ins16
c.743_744ins48
2 papers
NM_130760.3
p.S248ins8
c.742_743ins24
1 paper
NM_130760.3
p.P262insFs
c.784_785ins47
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."