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.S453insFs

c.1357_1358insG

Surrounding Variants

1 paper

NM_203281.3

p.F457S

c.1370T>C

1 paper

NM_203281.3

p.K445R

c.1334A>G

1 paper

NM_203281.3

p.K445M

c.1334A>T

1 paper

NM_203281.3

p.K445Q

c.1333A>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

1 paper

NM_203281.3

p.Q439K

c.1315C>A

1 paper

NM_203281.3

p.W436insFs

c.1307_1308insA

1 paper

NM_203281.3

p.G424E

c.1271G>A

1 paper

NM_203281.3

p.L423L

c.1269G>A

2 papers

NM_203281.3

p.E422A

c.1265A>C