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.I121M

c.363C>G

Surrounding Variants

1 paper

NM_001270398.2

p.N128S

c.383A>G

1 paper

NM_002821.5

p.W123*

c.368G>A

1 paper

NM_002821.5

p.W123*

c.369G>A

1 paper

NM_002821.5

p.S118F

c.353C>T

1 paper

NM_001270398.2

p.R121H

c.362G>A

1 paper

NM_002821.5

p.L93R

c.278T>G

1 paper

NM_002821.5

p.L85_S86del1

c.255_257delGAG

1 paper

NM_002821.5

p.A80G

c.239C>G

1 paper

NM_002821.5

p.D68N

c.202G>A

1 paper

NM_002821.5

p.W65R

c.193T>A

1 paper

NM_002821.5

p.Q45Q

c.135G>A

1 paper

NM_002821.5

p.V33G

c.98T>G