Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.P110insFs

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
1 paper
NM_017848.6
p.P110insFs
c.329_330ins5
Surrounding Variants
1 paper
NM_017848.6
p.P110ins2
c.329_330ins6
1 paper
NM_017848.6
p.P110fs
c.328_329fs
1 paper
NM_017848.6
p.P111insFs
c.332_333insA
1 paper
NM_017848.6
p.P111H
c.332C>A
1 paper
NM_017848.6
p.P111fs
c.331_332fs
1 paper
NM_017848.6
p.P109_P110insRR
c.325_329ins6
1 paper
NM_017848.6
p.Q112P
c.335A>C
1 paper
NM_017848.6
p.L105P
c.314T>C
1 paper
NM_017848.6
p.H102Q
c.306C>G
1 paper
NM_017848.6
p.R128Q
c.383G>A
1 paper
NM_017848.6
p.A88T
c.262G>A
2 papers
NM_017848.6
p.P87T
c.259C>A
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