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.R540H

c.1619G>A

Surrounding Variants

1 paper

NM_203281.3

p.T558K

c.1673C>A

1 paper

NM_203281.3

p.M524V

c.1570A>G

1 paper

NM_203281.3

p.E515A

c.1544A>C

1 paper

NM_203281.3

p.Q512K

c.1534C>A

1 paper

NM_203281.3

p.P510T

c.1528C>A

1 paper

NM_203281.3

p.P510S

c.1528C>T

1 paper

NM_203281.3

p.G505R

c.1513G>A

1 paper

NM_203281.3

p.G505R

c.1513G>C

1 paper

NM_203281.3

p.H504Y

c.1510C>T

1 paper

NM_203281.3

p.R502S

c.1506G>C

1 paper

NM_203281.3

p.R502S

c.1506G>T

1 paper

NM_203281.3

p.L562V

c.1684C>G