Varaico: Literature-Extracted Genetic Variants

MATK

63 papers

RefSeq Summary

The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a...

Pfam Domains

SH3_1aa 60–101UCSCSH3 domain

SH2aa 122–196UCSCSH2 domain

PK_Tyr_Ser-Thraa 235–478UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

megakaryocyte-associated tyrosine kinase

HGNC Alias Symbols

HYLTK; CTK; HYL; Lsk; CHK; HHYLTK; DKFZp434N1212; MGC1708; MGC2101

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139355.3

p.A376fs

c.1126_1127fs

Surrounding Variants

1 paper

NM_139355.3

p.G372R

c.1114G>C

1 paper

NM_139355.3

p.D370N

c.1108G>A

1 paper

NM_139355.3

p.S384I

c.1151G>T

1 paper

NM_139355.3

p.S369G

c.1105A>G

3 papers

NM_139355.3

p.P393L

c.1178C>T

1 paper

NM_139355.3

p.L359V

c.1075C>G

1 paper

NM_139355.3

p.A354T

c.1060G>A

1 paper

NM_139355.3

p.E338Q

c.1012G>C

1 paper

NM_139355.3

p.V303I

c.907G>A

1 paper

NM_002378.4

p.W416*

c.1247G>A

1 paper

NM_002378.4

p.W416*

c.1248G>A

1 paper

NM_139355.3

p.V289V

c.867G>A