Varaico: Literature-Extracted Genetic Variants

BMX

98 papers

RefSeq Summary

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-t...

Pfam Domains

PHaa 5–111UCSCPH domain

BTKaa 119–148UCSCBTK motif

SH2aa 296–377UCSCSH2 domain

PK_Tyr_Ser-Thraa 417–666UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

BMX non-receptor tyrosine kinase

HGNC Alias Symbols

ETK; PSCTK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203281.3

p.A139P

c.415G>C

Surrounding Variants

1 paper

NM_203281.3

p.C143F

c.428G>T

1 paper

NM_203281.3

p.L131R

c.392T>G

1 paper

NM_203281.3

p.V126L

c.376G>C

1 paper

NM_203281.3

p.V126L

c.376G>T

2 papers

NM_203281.3

p.S100G

c.298A>G

1 paper

NM_203281.3

p.M182I

c.546G>A

1 paper

NM_203281.3

p.M182I

c.546G>C

1 paper

NM_203281.3

p.M182I

c.546G>T

1 paper

NM_203281.3

p.S208S

c.624T>A

1 paper

NM_203281.3

p.A214V

c.641C>T

1 paper

NM_203281.3

p.I223N

c.668T>A

1 paper

NM_203281.3

p.F230V

c.688T>G