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

1–12 of 176 variants

4 papers

NM_002821.5

p.G348S

c.1042G>A

3 papers

NM_002821.5

p.R12R

c.36C>T

3 papers

NM_002821.5

p.P545A

c.1633C>G

2 papers

NM_002821.5

p.I121M

c.363C>G

2 papers

NM_002821.5

p.P254L

c.761C>T

2 papers

NM_002821.5

p.R294H

c.881G>A

2 papers

NM_002821.5

p.P345L

c.1034C>T

2 papers

NM_002821.5

p.V354M

c.1060G>A

2 papers

NM_002821.5

p.P545R

c.1634C>G

2 papers

NM_002821.5

p.G617G

c.1851G>A

2 papers

NM_002821.5

p.I651T

c.1952T>C

2 papers

NM_002821.5

p.M746L

c.2236A>C