Varaico: Literature-Extracted Genetic Variants

Gene:FAM83C
Variant:p.R295L

FAM83C

45 papers

RefSeq Summary

This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017].

Pfam Domains

SACK1aa 29–306UCSCScaffolding anchor of CK1 domain

Gene Aliases

HGNC Name

family with sequence similarity 83 member C

HGNC Previous Symbol

C20orf128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_178468.6
p.R295L
c.884G>T
Surrounding Variants
1 paper
NM_178468.6
p.I289F
c.865A>T
1 paper
NM_178468.6
p.R288H
c.863G>A
1 paper
NM_178468.6
p.Q305K
c.913C>A
1 paper
NM_178468.6
p.A330P
c.988G>C
1 paper
NM_178468.6
p.R359C
c.1075C>T
1 paper
NM_178468.6
p.S380F
c.1139C>T
1 paper
NM_178468.6
p.R396C
c.1186C>T
1 paper
NM_178468.6
p.S405P
c.1213T>C
1 paper
NM_178468.6
p.P436H
c.1307C>A
1 paper
NM_178468.6
p.P444L
c.1331C>T
1 paper
NM_178468.6
p.R448H
c.1343G>A
1 paper
NM_178468.6
p.R450W
c.1348C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."