Varaico: Literature-Extracted Genetic Variants

Gene:FAM120A
Variant:p.R45L

FAM120A

53 papers

Pfam Domains

FAM120Aaa 226–332UCSCFAM120A-like domain

Gene Aliases

HGNC Name

family with sequence similarity 120 member A

HGNC Previous Symbol

C9orf10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014612.5
p.R45L
c.134G>T
Surrounding Variants
1 paper
NM_014612.5
p.T42S
c.125C>G
1 paper
NM_014612.5
p.T42S
c.124A>T
1 paper
NM_014612.5
p.D49G
c.146A>G
1 paper
NM_014612.5
p.D64fs
c.190_191fs
1 paper
NM_014612.5
p.W71*
c.212G>A
1 paper
NM_014612.5
p.W71*
c.213G>A
1 paper
NM_014612.5
p.A17A
c.51C>A
1 paper
NM_014612.5
p.P15R
c.44C>G
1 paper
NM_014612.5
p.G88S
c.262G>A
1 paper
NM_014612.5
p.M1_G2insFs
c.3_4insA
1 paper
NM_014612.5
p.R116H
c.347G>A
1 paper
NM_014612.5
p.R116P
c.347G>C
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