Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.N81K

BCAP31

206 papers

RefSeq Summary

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the ante...

Pfam Domains

Bap31aa 1–136UCSCBap31/Bap29 transmembrane region
Bap31aa 1–136UCSCBap31/Bap29 transmembrane region
Bap31_Bap29_Caa 179–246UCSCBap31/Bap29 cytoplasmic coiled-coil domain
Bap31_Bap29_Caa 179–246UCSCBap31/Bap29 cytoplasmic coiled-coil domain

Gene Aliases

HGNC Name

B cell receptor associated protein 31

HGNC Alias Symbols

DXS1357E; BAP31; 6C6-Ag; CDM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256447.2
p.N81K
c.243C>G
Surrounding Variants
1 paper
NM_001256447.2
p.N81K
c.243C>A
1 paper
NM_001256447.2
p.L82F
c.244C>T
1 paper
NM_001256447.2
p.L82delFs
c.245delA
1 paper
NM_001256447.2
p.Q83*
c.247C>T
1 paper
NM_001256447.2
p.E78D
c.234A>C
1 paper
NM_001256447.2
p.T77M
c.230C>T
1 paper
NM_001256447.2
p.P86L
c.257C>T
1 paper
NM_001256447.2
p.D75_V76del2
c.223_227del6
1 paper
NM_001256447.2
p.D75A
c.224A>C
2 papers
NM_001256447.2
p.G87_M89del0
c.261_266del6
1 paper
NM_001256447.2
p.E69A
c.206A>C
1 paper
NM_001256447.2
p.R68P
c.203G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."