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

2 papers

NM_002821.5

p.P254L

c.761C>T

Surrounding Variants

1 paper

NM_002821.5

p.S255_Q257del3

c.763_770del9

1 paper

NM_002821.5

p.F244F

c.732C>T

1 paper

NM_002821.5

p.E241G

c.722A>G

2 papers

NM_002821.5

p.R269H

c.806G>A

NM_001270398.2

p.R277H

c.830G>A

1 paper

NM_002821.5

p.R271C

c.811C>T

1 paper

NM_002821.5

p.V234V

c.702G>A

1 paper

NM_002821.5

p.D233G

c.698A>G

1 paper

NM_002821.5

p.I219V

c.655A>G

1 paper

NM_002821.5

p.G196E

c.587G>A

1 paper

NM_001270398.2

p.R196Q

c.587G>A

1 paper

NM_002821.5

p.T186M

c.557C>T

NM_001270398.2

p.T194M

c.581C>T

1 paper

NM_002821.5

p.N184K

c.552C>A