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.E245_E246delFs

c.733_736del4

Surrounding Variants

1 paper

NM_001256447.2

p.E245fs

c.733_734fs

1 paper

NM_001256447.2

p.K243_K244insFs

c.729_730insTT

5 papers

NM_001256447.2

p.V237_M241delFs

c.709_721del13

1 paper

NM_001256447.2

p.G239D

c.716G>A

2 papers

NM_001256447.2

p.D238V

c.713A>T

4 papers

NM_001256447.2

p.V237fs

c.709_710fs

1 paper

NM_001139457.2

p.A302fs

c.904_905fs

1 paper

NM_001256447.2

p.Q234_A235Splc

c.702+1G>A

1 paper

NM_001256447.2

p.L233R

c.698T>G

1 paper

NM_001256447.2

p.K232K

c.696G>A

1 paper

NM_001256447.2

p.L227L

c.681G>C

1 paper

NM_001256447.2

p.L226V

c.676T>G