Varaico: Literature-Extracted Genetic Variants

Gene:FAM83C
Variant:p.R482*

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
1 paper
NM_178468.6
p.R482*
c.1444C>T
Surrounding Variants
1 paper
NM_178468.6
p.V492M
c.1474G>A
1 paper
NM_178468.6
p.P466S
c.1396C>T
1 paper
NM_178468.6
p.R505H
c.1514G>A
1 paper
NM_178468.6
p.R450W
c.1348C>T
1 paper
NM_178468.6
p.R448H
c.1343G>A
1 paper
NM_178468.6
p.R518*
c.1552C>T
1 paper
NM_178468.6
p.P444L
c.1331C>T
1 paper
NM_178468.6
p.P436H
c.1307C>A
1 paper
NM_178468.6
p.L534V
c.1600C>G
1 paper
NM_178468.6
p.S547Y
c.1640C>A
1 paper
NM_178468.6
p.Q550*
c.1648C>T
1 paper
NM_178468.6
p.S553R
c.1657A>C
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