Varaico: Literature-Extracted Genetic Variants

Gene:BTN3A2
Variant:p.H163H

BTN3A2

41 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members o...

Pfam Domains

V-setaa 35–144UCSCImmunoglobulin V-set domain
C2-set_3aa 146–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

Gene Aliases

HGNC Name

butyrophilin subfamily 3 member A2

HGNC Alias Symbol

BTN3.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007047.5
p.H163H
c.489T>C
Surrounding Variants
1 paper
NM_007047.5
p.P173S
c.517C>T
2 papers
NM_007047.5
p.E153K
c.457G>A
1 paper
NM_007047.5
p.N149K
c.447T>A
1 paper
NM_007047.5
p.N149K
c.447T>G
1 paper
NM_007047.5
p.S148C
c.443C>G
2 papers
NM_007047.5
p.N181D
c.541A>G
1 paper
NM_007047.5
p.N181delins
c.541_543delinsGAT
2 papers
NM_007047.5
p.A182T
c.544G>A
1 paper
NM_007047.5
p.K183K
c.549G>A
1 paper
NM_007047.5
p.D197D
c.591T>C
3 papers
NM_007047.5
p.R211K
c.632G>A
2 papers
NM_007047.5
p.E216*
c.646G>T
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