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.Y13delFs

c.37delA

Surrounding Variants

1 paper

NM_001256447.2

p.L12F

c.34C>T

1 paper

NM_001256447.2

p.V16D

c.47T>A

1 paper

NM_001256447.2

p.T10insFs

c.29_30insA

1 paper

NM_001256447.2

p.A9insFs

c.26_27insCA

1 paper

NM_001256447.2

p.V18A

c.53T>C

3 papers

NM_001256447.2

p.V8I

c.22G>A

1 paper

NM_001256447.2

p.L20S

c.59T>C

1 paper

NM_001256447.2

p.Q4H

c.12G>C

1 paper

NM_001256447.2

p.L22F

c.64C>T

1 paper

NM_001256447.2

p.L22delFs

c.64delG

2 papers

NM_001256447.2

p.Q4E

c.10C>G

1 paper

NM_001256447.2

p.Q4K

c.10C>A