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.V654A

c.1961T>C

Surrounding Variants

2 papers

NM_002821.5

p.I651T

c.1952T>C

1 paper

NM_002821.5

p.S659L

c.1976C>T

1 paper

NM_002821.5

p.Q645Q

c.1935G>A

1 paper

NM_002821.5

p.T675M

c.2024C>T

1 paper

NM_002821.5

p.R630R

c.1890C>A

1 paper

NM_002821.5

p.R630S

c.1888C>A

1 paper

NM_001270398.2

p.L630M

c.1888C>A

2 papers

NM_002821.5

p.G617G

c.1851G>A

1 paper

NM_002821.5

p.C613*

c.1839C>A

1 paper

NM_001270398.2

p.R608H

c.1823G>A

1 paper

NM_152881.4

p.K465R

c.1394A>G

1 paper

NM_002821.5

p.V590Splc

c.1769-2A>G