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.A558V

c.1673C>T

Surrounding Variants

1 paper

NM_002821.5

p.V560M

c.1678G>A

1 paper

NM_002821.5

p.V560G

c.1679T>G

1 paper

NM_002821.5

p.R562*

c.1684C>T

2 papers

NM_001270398.2

p.A560T

c.1678G>A

NM_002821.5

p.A552T

c.1654G>A

1 paper

NM_002821.5

p.A565T

c.1693G>A

1 paper

NM_002821.5

p.C570Y

c.1709G>A

2 papers

NM_002821.5

p.P545R

c.1634C>G

3 papers

NM_002821.5

p.P545A

c.1633C>G

1 paper

NM_002821.5

p.R581H

c.1742G>A

1 paper

NM_002821.5

p.V590Splc

c.1769-2A>G

1 paper

NM_152881.4

p.K465R

c.1394A>G

1 paper

NM_001270398.2

p.R608H

c.1823G>A