Varaico: Literature-Extracted Genetic Variants

Gene:B2M
Variant:p.L13P

B2M

523 papers

RefSeq Summary

This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly...

Pfam Domains

C1-setaa 27–107UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

beta-2-microglobulin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_004048.4
p.L13P
c.38T>C
Surrounding Variants
1 paper
NM_004048.4
p.L13H
c.38T>A
5 papers
NM_004048.4
p.L13R
c.38T>G
11 papers
NM_004048.4
p.L13fs
c.37_38fs
2 papers
NM_004048.4
p.L13fs
c.37_38fs
1 paper
NM_004048.4
p.L13insFs
c.37_38insCC
1 paper
NM_004048.4
p.L15insFs
c.43_44dupCT
30 papers
NM_004048.4
p.L15delFs
c.43_44delCT
2 papers
NM_004048.4
p.L13del1
c.37_38delCTC
3 papers
NM_004048.4
p.S14_L15delFs
c.41_44del4
6 papers
NM_004048.4
p.S14fs
c.40_41fs
11 papers
NM_004048.4
p.L15_S16delFs
c.45_48del4
11 papers
NM_004048.4
p.L12Q
c.35T>A
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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."