Varaico: Literature-Extracted Genetic Variants

Gene:B2M
Variant:p.L12_S14delFs

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
1 paper
NM_004048.4
p.L12_S14delFs
c.34_40del7
Surrounding Variants
2 papers
NM_004048.4
p.L12_S14delFs
c.36_40del5
1 paper
NM_004048.4
p.L12fs
c.34_35fs
1 paper
NM_004048.4
p.L12V
c.34C>G
1 paper
NM_004048.4
p.A11V
c.32C>T
2 papers
NM_004048.4
p.A11T
c.31G>A
1 paper
NM_004048.4
p.A11P
c.31G>C
1 paper
NM_004048.4
p.A11S
c.31G>T
11 papers
NM_004048.4
p.L12Q
c.35T>A
27 papers
NM_004048.4
p.L12P
c.35T>C
4 papers
NM_004048.4
p.L12R
c.35T>G
1 paper
NM_004048.4
p.L13insFs
c.37_38insCC
1 paper
NM_004048.4
p.L15insFs
c.43_44dupCT
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