Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.P44Q

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.P44Q
c.131C>A
Surrounding Variants
2 papers
NM_017848.6
p.Q37_H38del1
c.111_113delTGC
2 papers
NM_017848.6
p.A57D
c.170C>A
1 paper
NM_017848.6
p.P20P
c.60C>T
2 papers
NM_017848.6
p.C14*
c.42T>A
2 papers
NM_017848.6
p.H86N
c.256C>A
1 paper
NM_017848.6
p.M1fs
c.1_2fs
2 papers
NM_017848.6
p.P87T
c.259C>A
1 paper
NM_017848.6
p.A88T
c.262G>A
1 paper
NM_017848.6
p.H102Q
c.306C>G
1 paper
NM_017848.6
p.L105P
c.314T>C
1 paper
NM_017848.6
p.P109_P110insRR
c.325_329ins6
1 paper
NM_017848.6
p.P110insFs
c.329_330ins5
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