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

1–12 of 88 variants

3 papers

NM_203281.3

p.W649*

c.1946G>A

3 papers

NM_203281.3

p.W649*

c.1947G>A

2 papers

NM_203281.3

p.S100G

c.298A>G

2 papers

NM_203281.3

p.S284L

c.851C>T

2 papers

NM_203281.3

p.E422A

c.1265A>C

2 papers

NM_203281.3

p.M464I

c.1392G>A

2 papers

NM_203281.3

p.M464I

c.1392G>C

2 papers

NM_203281.3

p.M464I

c.1392G>T

2 papers

NM_203281.3

p.Y566F

c.1697A>T

1 paper

NM_203281.3

p.M1delFs

c.1delA

1 paper

NM_203281.3

p.M1del1

c.1_2delATG

1 paper

NM_203281.3

p.M1V

c.1A>G