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.E745D

c.2235G>C

Surrounding Variants

1 paper

NM_002821.5

p.E745D

c.2235G>T

2 papers

NM_002821.5

p.M746L

c.2236A>C

2 papers

NM_002821.5

p.M746L

c.2236A>T

1 paper

NM_002821.5

p.C748S

c.2242T>A

1 paper

NM_002821.5

p.C748S

c.2243G>C

1 paper

NM_001270398.2

p.K745N

c.2235G>C

1 paper

NM_002821.5

p.A732A

c.2196C>G

1 paper

NM_002821.5

p.Y725F

c.2174A>T

1 paper

NM_002821.5

p.Q703H

c.2109G>C

1 paper

NM_002821.5

p.Q703H

c.2109G>T

3 papers

NM_001270398.2

p.P706R

c.2117C>G

NM_152882.4

p.P642R

c.1925C>G

NM_002821.5

p.P698R

c.2093C>G

2 papers

NM_001270398.2

p.G765R

c.2293G>A

NM_152881.4

p.G627R

c.1879G>A