Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.L787Q

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.L787Q
c.2360T>A
Surrounding Variants
1 paper
NM_017848.6
p.V774F
c.2320G>T
1 paper
NM_017848.6
p.R771W
c.2311C>T
1 paper
NM_017848.6
p.R804Q
c.2411G>A
1 paper
NM_017848.6
p.P843L
c.2528C>T
1 paper
NM_017848.6
p.H901P
c.2702A>C
1 paper
NM_017848.6
p.V924I
c.2770G>A
1 paper
NM_017848.6
p.G932D
c.2795G>A
1 paper
NM_017848.6
p.M934I
c.2802G>T
1 paper
NM_017848.6
p.M934I
c.2802G>C
1 paper
NM_017848.6
p.M934I
c.2802G>A
2 papers
NM_017848.6
p.V965L
c.2893G>T
2 papers
NM_017848.6
p.V965L
c.2893G>C
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