Varaico: Literature-Extracted Genetic Variants

PRKD1

255 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MA...

Pfam Domains

Ubiquitin_PRKD1_Naa 48–135UCSCSerine/threonine-protein kinase D1-like, ubiquitin-like domain

C1_1aa 147–198UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 271–323UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PHaa 423–539UCSCPH domain

Pkinaseaa 585–839UCSCProtein kinase domain

Gene Aliases

HGNC Name

protein kinase D1

HGNC Previous Symbol

PRKCM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002742.3

p.L299*

c.896T>A

Surrounding Variants

9 papers

NM_002742.3

p.L299W

c.896T>G

1 paper

NM_002742.3

p.Q297H

c.891G>T

1 paper

NM_002742.3

p.L291_F295del5

c.871_884del15

1 paper

NM_002742.3

p.D303N

c.907G>A

1 paper

NM_001330069.2

p.L299R

c.896T>G

1 paper

NM_002742.3

p.Y286insFs

c.858dupC

1 paper

NM_002742.3

p.I275V

c.823A>G

1 paper

NM_002742.3

p.V274A

c.821T>C

1 paper

NM_002742.3

p.V274D

c.821T>A

3 papers

NM_002742.3

p.H271Q

c.813C>G

3 papers

NM_002742.3

p.H271Q

c.813C>A

2 papers

NM_002742.3

p.P270L

c.809C>T