Varaico: Literature-Extracted Genetic Variants

Gene:FAM83C
Variant:p.E746Q

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.E746Q
c.2236G>C
Surrounding Variants
1 paper
NM_178468.6
p.V714A
c.2141T>C
1 paper
NM_178468.6
p.G703D
c.2108G>A
1 paper
NM_178468.6
p.K679Q
c.2035A>C
2 papers
NM_178468.6
p.T662M
c.1985C>T
1 paper
NM_178468.6
p.G648E
c.1943G>A
2 papers
NM_178468.6
p.F641F
c.1923C>T
1 paper
NM_178468.6
p.T629S
c.1886C>G
1 paper
NM_178468.6
p.T629S
c.1885A>T
1 paper
NM_178468.6
p.Y600H
c.1798T>C
1 paper
NM_178468.6
p.Q589*
c.1765C>T
1 paper
NM_178468.6
p.R583W
c.1747A>T
1 paper
NM_178468.6
p.R560Q
c.1679G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."