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.P25A

c.73C>G

Surrounding Variants

1 paper

NM_001256447.2

p.P25L

c.74C>T

1 paper

NM_001256447.2

p.P25P

c.75C>A

1 paper

NM_001256447.2

p.F26_I27insCA

c.76_80ins6

1 paper

NM_001256447.2

p.P25_F26delFs

c.75_76delAG

1 paper

NM_001256447.2

p.F26delFs

c.76delA

2 papers

NM_001139457.2

p.L87_L89del0

c.261_266del6

NM_001256447.2

p.L20_L22del0

c.60_65del6

1 paper

NM_001256447.2

p.L22delFs

c.64delG

1 paper

NM_001256447.2

p.L22F

c.64C>T

1 paper

NM_001256447.2

p.L20S

c.59T>C

5 papers

NM_001256447.2

p.R31K

c.92G>A

1 paper

NM_001256447.2

p.K30delFs

c.88delT

1 paper

NM_001256447.2

p.V18A

c.53T>C