Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.A1039T

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.A1039T
c.3115G>A
Surrounding Variants
1 paper
NM_017848.6
p.V1033A
c.3098T>C
1 paper
NM_017848.6
p.R1070H
c.3209G>A
1 paper
NM_017848.6
p.R977Q
c.2930G>A
1 paper
NM_017848.6
p.A969P
c.2905G>C
2 papers
NM_017848.6
p.V965L
c.2893G>T
2 papers
NM_017848.6
p.V965L
c.2893G>C
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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."