Varaico: Literature-Extracted Genetic Variants

Gene:B2M

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
1–12 of 467 variants
30 papers
NM_004048.4
p.L15delFs
c.43_44delCT
27 papers
NM_004048.4
p.L12P
c.35T>C
26 papers
NM_004048.4
p.L15fs
c.43_44fs
22 papers
NM_004048.4
p.M1I
c.3G>A
20 papers
NM_004048.4
p.M1T
c.2T>C
20 papers
NM_004048.4
p.L15fs
c.43_44fs
19 papers
NM_004048.4
p.M1I
c.3G>C
18 papers
NM_004048.4
p.Q22*
c.64C>T
17 papers
NM_004048.4
p.M1K
c.2T>A
16 papers
NM_004048.4
p.M1R
c.2T>G
16 papers
NM_004048.4
p.M1I
c.3G>T
16 papers
NM_004048.4
p.L7*
c.20T>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."