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

2 papers

NM_017935.5

p.L128L

c.382C>T

Surrounding Variants

1 paper

NM_017935.5

p.L128Q

c.383T>A

1 paper

NM_017935.5

p.L127*

c.380T>G

1 paper

NM_017935.5

p.S120N

c.359G>A

1 paper

NM_017935.5

p.K119M

c.356A>T

1 paper

NM_017935.5

p.K119*

c.355A>T

1 paper

NM_017935.5

p.C116_V118del0

c.346_354del9

1 paper

NM_017935.5

p.L115V

c.343C>G

1 paper

NM_017935.5

p.P108P

c.324A>G

1 paper

NM_017935.5

p.S152N

c.455G>A

1 paper

NM_017935.5

p.L89P

c.266T>C

1 paper

NM_017935.5

p.L85V

c.253T>G

1 paper

NM_017935.5

p.L82Fs

c.244_245delinsAFs