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.V291I

c.871G>A

Surrounding Variants

2 papers

NM_002821.5

p.R294H

c.881G>A

1 paper

NM_002821.5

p.G284E

c.851G>A

1 paper

NM_002821.5

p.C301C

c.903C>T

1 paper

NM_002821.5

p.G303S

c.907G>A

1 paper

NM_002821.5

p.G303G

c.909C>A

1 paper

NM_002821.5

p.Q304*

c.910C>T

1 paper

NM_002821.5

p.R276H

c.827G>A

1 paper

NM_002821.5

p.Q306Q

c.918G>A

1 paper

NM_002821.5

p.H274R

c.821A>G

1 paper

NM_002821.5

p.I311I

c.933C>A

1 paper

NM_001270398.2

p.P334L

c.1001C>T

1 paper

NM_002821.5

p.V332L

c.994G>C