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.G367G

c.1101A>G

Surrounding Variants

1 paper

NM_017935.5

p.A368T

c.1102G>A

1 paper

NM_001127507.3

p.M241fs

c.721_722fs

1 paper

NM_001127507.3

p.M241delFs

c.723delG

1 paper

NM_017935.5

p.M374I

c.1122G>A

1 paper

NM_017935.5

p.M374I

c.1122G>C

1 paper

NM_017935.5

p.M374I

c.1122G>T

30 papers

NM_017935.5

p.A383T

c.1147G>A

1 paper

NM_017935.5

p.A351E

c.1052C>A

1 paper

NM_017935.5

p.H389Q

c.1167T>A

1 paper

NM_017935.5

p.H389Q

c.1167T>G

1 paper

NM_017935.5

p.L346_G354del9

c.1036_1061del27

1 paper

NM_017935.5

p.D400G

c.1199A>G