Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.S248P

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
7 papers
NM_130760.3
p.S248P
c.742T>C
Surrounding Variants
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
11 papers
NM_130760.3
p.S248ins16
c.742_743ins48
1 paper
NM_130760.3
p.S248_P249ins16
c.742_746ins48
1 paper
NM_130760.3
p.P249fs
c.745_746fs
10 papers
NM_130760.3
p.P246Q
c.737C>A
1 paper
NM_130760.3
p.P246insFs
c.737_738ins19
1 paper
NM_130760.3
p.P246insFs
c.736_737ins5
1 paper
NM_130760.3
p.P246fs
c.736_737fs
1 paper
NM_130760.3
p.D250N
c.748G>A
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