Varaico: Literature-Extracted Genetic Variants

Gene:B2M
Variant:p.L7fs

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.L7fs
c.19_20fs
Surrounding Variants
5 papers
NM_004048.4
p.L7V
c.19T>G
1 paper
NM_004048.4
p.L7_A8delFs
c.19_22del4
1 paper
NM_004048.4
p.L7_E19del13
c.19_56del39
16 papers
NM_004048.4
p.L7*
c.20T>A
5 papers
NM_004048.4
p.L7S
c.20T>C
16 papers
NM_004048.4
p.L7*
c.20T>G
1 paper
NM_004048.4
p.L7_L10delFs
c.21_30del10
2 papers
NM_004048.4
p.A8delFs
c.22delG
1 paper
NM_004048.4
p.A8_L10delFs
c.22_29del8
1 paper
NM_004048.4
p.A8_A11delFs
c.22_31del10
1 paper
NM_004048.4
p.A8_L13delFs
c.22_38del17
3 papers
NM_004048.4
p.A6V
c.17C>T
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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."