Varaico: Literature-Extracted Genetic Variants

PTK7

123 papers

RefSeq Summary

This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyro...

Pfam Domains

Ig_3aa 33–105UCSCImmunoglobulin domain

Ig_3aa 128–204UCSCImmunoglobulin domain

Ig_3aa 226–304UCSCImmunoglobulin domain

I-setaa 327–408UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

protein tyrosine kinase 7 (inactive)

HGNC Alias Symbol

CCK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002821.5

p.A393T

c.1177G>A

Surrounding Variants

1 paper

NM_002821.5

p.H392H

c.1176C>T

1 paper

NM_002821.5

p.A393V

c.1178C>T

1 paper

NM_002821.5

p.A394T

c.1180G>A

1 paper

NM_002821.5

p.T390I

c.1169C>T

1 paper

NM_002821.5

p.G398C

c.1192G>T

1 paper

NM_002821.5

p.R401*

c.1201A>T

1 paper

NM_001270398.2

p.N413S

c.1238A>G

1 paper

NM_002821.5

p.T410S

c.1228A>T

1 paper

NM_002821.5

p.T410S

c.1229C>G

1 paper

NM_002821.5

p.Q371*

c.1111C>T

1 paper

NM_002821.5

p.R362Q

c.1085G>A

2 papers

NM_001270398.2

p.R370W

c.1108C>T

NM_002821.5

p.R362W

c.1084C>T