Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.G415A

FAM120C

56 papers

RefSeq Summary

This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in mul...

Pfam Domains

FAM120Aaa 301–407UCSCFAM120A-like domain

Gene Aliases

HGNC Name

family with sequence similarity 120 member C

HGNC Previous Symbol

CXorf17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017848.6
p.G415A
c.1244G>C
Surrounding Variants
1 paper
NM_017848.6
p.S417S
c.1251C>T
1 paper
NM_017848.6
p.S404S
c.1212A>G
1 paper
NM_017848.6
p.S404L
c.1211C>T
1 paper
NM_017848.6
p.A399E
c.1196C>A
1 paper
NM_017848.6
p.R422W
c.1264C>T
1 paper
NM_017848.6
p.K443R
c.1328A>G
1 paper
NM_017848.6
p.Y456F
c.1367A>T
1 paper
NM_017848.6
p.P459L
c.1376C>T
1 paper
NM_017848.6
p.M486V
c.1456A>G
1 paper
NM_017848.6
p.P507P
c.1521C>T
1 paper
NM_017848.6
p.G535R
c.1603G>C
1 paper
NM_017848.6
p.G535R
c.1603G>A
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