Varaico: Literature-Extracted Genetic Variants

Gene:DIPK1C
Variant:p.P388H

DIPK1C

33 papers

RefSeq Summary

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided...

Pfam Domains

PIP49_Naa 23–169UCSCN-term cysteine-rich ER, FAM69
PIP49_Caa 187–385UCSCProtein-kinase domain of FAM69

Gene Aliases

HGNC Name

divergent protein kinase domain 1C

HGNC Previous Symbols

C18orf51; FAM69C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001044369.3
p.P388H
c.1163C>A
Surrounding Variants
2 papers
NM_001044369.3
p.R393W
c.1177C>T
1 paper
NM_001044369.3
p.R393Q
c.1178G>A
1 paper
NM_001044369.3
p.A378V
c.1133C>T
1 paper
NM_001044369.3
p.R404H
c.1211G>A
1 paper
NM_001044369.3
p.Q405R
c.1214A>G
1 paper
NM_001044369.3
p.A366T
c.1096G>A
2 papers
NM_001044369.3
p.R355H
c.1064G>A
1 paper
NM_001044369.3
p.V342I
c.1024G>A
1 paper
NM_001044369.3
p.R341H
c.1022G>A
1 paper
NM_001044369.3
p.A339V
c.1016C>T
1 paper
NM_001044369.3
p.F324F
c.972T>C
1 paper
NM_001044369.3
p.E304_M307delFs
c.910_919del10
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