Varaico: Literature-Extracted Genetic Variants

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

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.F36C

c.107T>G

Surrounding Variants

1 paper

NM_001256447.2

p.F36V

c.106T>G

1 paper

NM_001256447.2

p.Q33_I35Fs

c.98_104delinsTCCFs

1 paper

NM_001256447.2

p.K37N

c.111G>T

1 paper

NM_001256447.2

p.K37N

c.111G>C

1 paper

NM_001256447.2

p.I35V

c.103A>G

1 paper

NM_001256447.2

p.Q33delFs

c.99delC

1 paper

NM_001256447.2

p.S38insFs

c.113dupC

6 papers

NM_001256447.2

p.Q33*

c.97C>T

1 paper

NM_001256447.2

p.L40L

c.118C>T

1 paper

NM_001256447.2

p.R39_V41ins1

c.116_121dup6

5 papers

NM_001256447.2

p.R31K

c.92G>A

1 paper

NM_001256447.2

p.L44delFs

c.130delA