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_001270398.2

p.H791R

c.2372A>G

Surrounding Variants

2 papers

NM_001270398.2

p.R790L

c.2369G>T

NM_152881.4

p.R652L

c.1955G>T

2 papers

NM_002821.5

p.A777V

c.2330C>T

NM_001270398.2

p.A785V

c.2354C>T

1 paper

NM_002821.5

p.G775G

c.2325C>G

1 paper

NM_002821.5

p.F791L

c.2373C>G

2 papers

NM_002821.5

p.G775S

c.2323G>A

1 paper

NM_002821.5

p.P792L

c.2375C>T

1 paper

NM_002821.5

p.V767A

c.2300T>C

1 paper

NM_001270398.2

p.V775M

c.2323G>A

1 paper

NM_002821.5

p.E765K

c.2293G>A

2 papers

NM_001270398.2

p.G765R

c.2293G>A

NM_152881.4

p.G627R

c.1879G>A

2 papers

NM_001270398.2

p.G765R

c.2293G>C

NM_152881.4

p.G627R

c.1879G>C

1 paper

NM_002821.5

p.E819E

c.2457G>A