Varaico: Literature-Extracted Genetic Variants

Gene:DIPK1C
Variant:p.R179S

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.R179S
c.535C>A
Surrounding Variants
1 paper
NM_001044369.3
p.R179H
c.536G>A
1 paper
NM_001044369.3
p.P173P
c.519G>A
1 paper
NM_001044369.3
p.A221T
c.661G>A
1 paper
NM_001044369.3
p.A221V
c.662C>T
1 paper
NM_001044369.3
p.A227T
c.679G>A
1 paper
NM_001044369.3
p.A227V
c.680C>T
1 paper
NM_001044369.3
p.R240W
c.718C>T
1 paper
NM_001044369.3
p.R240Q
c.719G>A
1 paper
NM_001044369.3
p.R111R
c.331C>A
1 paper
NM_001044369.3
p.G247insFs
c.740_741ins37
1 paper
NM_001044369.3
p.G248fs
c.742_743fs
1 paper
NM_001044369.3
p.M263T
c.788T>C
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