Varaico: Literature-Extracted Genetic Variants

TESK1

45 papers

RefSeq Summary

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to thos...

Pfam Domains

PK_Tyr_Ser-Thraa 57–311UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

testis associated actin remodelling kinase 1

HGNC Previous Name

testis-specific kinase 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

2 papers

NM_006285.3

p.A2T

c.4G>A

2 papers

NM_006285.3

p.A2D

c.5C>A

2 papers

NM_006285.3

p.L147L

c.441G>A

2 papers

NM_006285.3

p.A290V

c.869C>T

2 papers

NM_006285.3

p.L361delFs

c.1081delC

2 papers

NM_006285.3

p.L361fs

c.1081_1082fs

2 papers

NM_006285.3

p.H539Y

c.1615C>T

1 paper

NM_006285.3

p.P24R

c.71C>G

1 paper

NM_006285.3

p.A65T

c.193G>A

1 paper

NM_006285.3

p.P110H

c.329C>A

1 paper

NM_006285.3

p.L182V

c.544C>G

1 paper

NM_006285.3

p.R184*

c.550C>T