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

4 papers

NM_002821.5

p.G348S

c.1042G>A

Surrounding Variants

2 papers

NM_002821.5

p.P345L

c.1034C>T

1 paper

NM_002821.5

p.P352S

c.1054C>T

2 papers

NM_002821.5

p.V354M

c.1060G>A

1 paper

NM_002821.5

p.V341L

c.1021G>C

1 paper

NM_002821.5

p.V341L

c.1021G>T

1 paper

NM_002821.5

p.T334I

c.1001C>T

2 papers

NM_001270398.2

p.R370W

c.1108C>T

NM_002821.5

p.R362W

c.1084C>T

1 paper

NM_002821.5

p.R362Q

c.1085G>A

1 paper

NM_002821.5

p.V332L

c.994G>C

1 paper

NM_002821.5

p.V332L

c.994G>T

1 paper

NM_001270398.2

p.P334L

c.1001C>T

1 paper

NM_002821.5

p.Q371*

c.1111C>T