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.Q189*

c.565C>T

Surrounding Variants

1 paper

NM_001256447.2

p.L184_A186del3

c.550_557del9

1 paper

NM_001256447.2

p.A186P

c.556G>C

1 paper

NM_001256447.2

p.K190_K192del3

c.568_575del9

1 paper

NM_001256447.2

p.L184L

c.550C>T

1 paper

NM_001256447.2

p.L195insFs

c.584_585insA

9 papers

NM_001256447.2

p.N181T

c.542A>C

7 papers

NM_001256447.2

p.E178_E179insFs

c.533_536dup4

1 paper

NM_001256447.2

p.E180fs

c.538_539fs

1 paper

NM_001139457.2

p.E245_E246delFs

c.733_736del4

1 paper

NM_001139457.2

p.E245fs

c.733_734fs

1 paper

NM_001139457.2

p.E261_K266del6

c.781_797del18

1 paper

NM_001256447.2

p.K201Splc

c.601+1G>A