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_001139457.2

p.S180Y

c.539C>A

NM_001256447.2

p.S113Y

c.338C>A

Surrounding Variants

1 paper

NM_001139457.2

p.L179_S180insFs

c.535_538dup4

1 paper

NM_001256447.2

p.S113fs

c.337_338fs

2 papers

NM_001256447.2

p.L111_L112insFs

c.332_335dup4

NM_001139457.2

p.L178_L179insFs

c.533_536dup4

1 paper

NM_001256447.2

p.L111insFs

c.332dupT

1 paper

NM_001256447.2

p.I105_A106delFs

c.315_318del4

1 paper

NM_001256447.2

p.A106V

c.317C>T

1 paper

NM_001256447.2

p.L103L

c.309C>G

1 paper

NM_001256447.2

p.R101M

c.302G>T

1 paper

NM_001256447.2

p.R101W

c.301A>T

1 paper

NM_001139457.2

p.A166S

c.496G>T

1 paper

NM_001256447.2

p.L96delFs

c.286delG

2 papers

NM_001256447.2

p.G87_M89del0

c.261_266del6