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

1–12 of 159 variants

9 papers

NM_001256447.2

p.N181T

c.542A>C

7 papers

NM_001256447.2

p.E178_E179insFs

c.533_536dup4

6 papers

NM_001256447.2

p.Q33*

c.97C>T

5 papers

NM_001256447.2

p.R31K

c.92G>A

5 papers

NM_001256447.2

p.R31K

c.92G>A

5 papers

NM_001256447.2

p.V237_M241delFs

c.709_721del13

4 papers

NM_001256447.2

p.D65Splc

c.194-2A>G

4 papers

NM_001256447.2

p.V237fs

c.709_710fs

3 papers

NM_001256447.2

p.V8I

c.22G>A

3 papers

NM_001256447.2

p.I64fs

c.190_191fs

2 papers

NM_001256447.2

p.Q4E

c.10C>G

2 papers

NM_001139457.2

p.L87_L89del0

c.261_266del6