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

3 papers

NM_002821.5

p.R12R

c.36C>T

Surrounding Variants

1 paper

NM_002821.5

p.R10S

c.30A>C

1 paper

NM_002821.5

p.R10S

c.30A>T

1 paper

NM_002821.5

p.L17F

c.49C>T

1 paper

NM_002821.5

p.S7F

c.20C>T

1 paper

NM_002821.5

p.G6delFs

c.18delA

1 paper

NM_002821.5

p.G6fs

c.16_17fs

1 paper

NM_002821.5

p.G27D

c.80G>A

1 paper

NM_001270398.2

p.G7R

c.19G>A

1 paper

NM_001270398.2

p.G7R

c.19G>C