Varaico: Literature-Extracted Genetic Variants

Gene:FAM118A
Variant:p.R239H

FAM118A

28 papers

Pfam Domains

SIR2_2aa 142–280UCSCSIR2-like domain

Gene Aliases

HGNC Name

family with sequence similarity 118 member A

HGNC Previous Symbol

C22orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_017911.4
p.R239H
c.716G>A
Surrounding Variants
1 paper
NM_017911.4
p.N267N
c.801T>C
1 paper
NM_017911.4
p.G282R
c.844G>A
1 paper
NM_017911.4
p.G282R
c.844G>C
1 paper
NM_017911.4
p.F292delFs
c.875_876delTT
1 paper
NM_017911.4
p.Q310*
c.928C>T
1 paper
NM_017911.4
p.S311fs
c.931_932fs
1 paper
NM_017911.4
p.M217_E218Splc
c.651+3A>G
1 paper
NM_017911.4
p.S166S
c.498C>T
2 papers
NM_017911.4
p.Q160H
c.480G>C
2 papers
NM_017911.4
p.Q160H
c.480G>T
3 papers
NM_017911.4
p.R159Q
c.476G>A
1 paper
NM_017911.4
p.E154fs
c.460_461fs
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