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.V53_V54delFs

c.157_160del4

Surrounding Variants

1 paper

NM_001139457.2

p.L122fs

c.364_365fs

1 paper

NM_001139457.2

p.L122delFs

c.365_366delGA

1 paper

NM_001256447.2

p.I56T

c.167T>C

1 paper

NM_001256447.2

p.V57A

c.170T>C

1 paper

NM_001256447.2

p.V57delFs

c.170delA

1 paper

NM_001139457.2

p.T117insFs

c.349_350insCA

1 paper

NM_001256447.2

p.L59F

c.175C>T

1 paper

NM_001139457.2

p.V127_L128insFs

c.380_383dup4

1 paper

NM_001256447.2

p.L62M

c.184T>A

1 paper

NM_001139457.2

p.L129fs

c.385_386fs

1 paper

NM_001139457.2

p.S113Y

c.338C>A

1 paper

NM_001256447.2

p.L62F

c.186G>T