Varaico: Literature-Extracted Genetic Variants

CTTN

189 papers

RefSeq Summary

This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene...

Pfam Domains

HS1_repaa 83–118UCSCRepeat in HS1/Cortactin

HS1_repaa 120–155UCSCRepeat in HS1/Cortactin

HS1_repaa 157–192UCSCRepeat in HS1/Cortactin

HS1_repaa 194–229UCSCRepeat in HS1/Cortactin

HS1_repaa 231–266UCSCRepeat in HS1/Cortactin

Gene Aliases

HGNC Name

cortactin

HGNC Previous Symbol

EMS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005231.4

p.T68insFs

c.203_204insC

Surrounding Variants

1 paper

NM_005231.4

p.E60*

c.178G>T

1 paper

NM_005231.4

p.G83C

c.247G>T

1 paper

NM_005231.4

p.N54Splc

c.162-109A>G

1 paper

NM_005231.4

p.H49Y

c.145C>T

1 paper

NM_005231.4

p.S47C

c.140C>G

1 paper

NM_005231.4

p.K42E

c.124A>G

1 paper

NM_005231.4

p.R38*

c.112A>T

3 papers

NM_005231.4

p.T24T

c.72C>T

1 paper

NM_005231.4

p.T24I

c.71C>T

1 paper

NM_005231.4

p.T24A

c.70A>G

1 paper

NM_005231.4

p.D21G

c.62A>G

1 paper

NM_005231.4

p.G18_A19insC

c.52_56ins3