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

1–12 of 73 variants

41 papers

NM_017935.5

p.R61H

c.182G>A

30 papers

NM_017935.5

p.A383T

c.1147G>A

7 papers

NM_017935.5

p.W40C

c.120G>C

7 papers

NM_017935.5

p.W40C

c.120G>T

3 papers

NM_017935.5

p.H762Y

c.2284C>T

2 papers

NM_017935.5

p.L128L

c.382C>T

2 papers

NM_017935.5

p.R604Q

c.1811G>A

1 paper

NM_017935.5

p.P3A

c.7C>G

1 paper

NM_017935.5

p.P3L

c.8C>T

1 paper

NM_017935.5

p.G24Splc

c.71-43T>C

1 paper

NM_017935.5

p.L73L

c.217C>T

1 paper

NM_017935.5

p.N74K

c.222C>A