Varaico: Literature-Extracted Genetic Variants

Gene:B2M
Variant:p.E19*

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.E19*
c.55G>T
Surrounding Variants
1 paper
NM_004048.4
p.E19G
c.56A>G
1 paper
NM_004048.4
p.E19V
c.56A>T
1 paper
NM_004048.4
p.L18P
c.53T>C
1 paper
NM_004048.4
p.L18fs
c.52_53fs
1 paper
NM_004048.4
p.A20D
c.59C>A
1 paper
NM_004048.4
p.A20G
c.59C>G
1 paper
NM_004048.4
p.A20V
c.59C>T
1 paper
NM_004048.4
p.G17D
c.50G>A
1 paper
NM_004048.4
p.I21V
c.61A>G
1 paper
NM_004048.4
p.G17S
c.49G>A
1 paper
NM_004048.4
p.G17_L18del2
c.49_53del6
1 paper
NM_004048.4
p.I21M
c.63C>G
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