Varaico: Literature-Extracted Genetic Variants

BANK1

126 papers

RefSeq Summary

The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-media...

Pfam Domains

TIR_3aa 28–154UCSCToll/interleukin-1 receptor domain

DBBaa 199–284UCSCDof, BCAP, and BANK (DBB) motif,

Gene Aliases

HGNC Name

B cell scaffold protein with ankyrin repeats 1

HGNC Alias Symbol

FLJ20706

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017935.5

p.Q412*

c.1234C>T

Surrounding Variants

1 paper

NM_017935.5

p.I403I

c.1209C>A

1 paper

NM_017935.5

p.S429Splc

c.1286-15C>T

1 paper

NM_017935.5

p.A447V

c.1340C>T

1 paper

NM_017935.5

p.S471N

c.1412G>A

1 paper

NM_017935.5

p.D485N

c.1453G>A

1 paper

NM_017935.5

p.P513A

c.1537C>G

1 paper

NM_017935.5

p.G532delFs

c.1596delG

1 paper

NM_017935.5

p.T533fs

c.1597_1598fs

1 paper

NM_017935.5

p.D556H

c.1666G>C

1 paper

NM_017935.5

p.K599fs

c.1795_1796fs

2 papers

NM_017935.5

p.R604Q

c.1811G>A