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.W277L

c.830G>T

Surrounding Variants

1 paper

NM_203281.3

p.W277Splc

c.830+10A>T

1 paper

NM_203281.3

p.T271N

c.812C>A

1 paper

NM_203281.3

p.V258G

c.773T>G

1 paper

NM_203281.3

p.P280_E281delFs

c.838_841del4

2 papers

NM_203281.3

p.S284L

c.851C>T

1 paper

NM_203281.3

p.D292E

c.876T>A

1 paper

NM_203281.3

p.D292E

c.876T>G

1 paper

NM_203281.3

p.S251N

c.752G>A

1 paper

NM_203281.3

p.L249R

c.746T>G

1 paper

NM_203281.3

p.R237M

c.710G>T

1 paper

NM_203281.3

p.F230V

c.688T>G

1 paper

NM_203281.3

p.I223N

c.668T>A