Varaico: Literature-Extracted Genetic Variants

Gene:FAM171A1
Variant:p.V597I

FAM171A1

69 papers

Pfam Domains

FAM171A1-2-B_Naa 34–287UCSCFAM171A1/A2/B, N-terminal
FAM171A1-2-B_Caa 397–888UCSCFAM171A1/A2/B C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 171 member A1

HGNC Previous Symbol

C10orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010924.2
p.V597I
c.1789G>A
Surrounding Variants
1 paper
NM_001010924.2
p.S595F
c.1784C>T
1 paper
NM_001010924.2
p.V602I
c.1804G>A
1 paper
NM_001010924.2
p.A605S
c.1813G>T
1 paper
NM_001010924.2
p.P584Q
c.1751C>A
1 paper
NM_001010924.2
p.E612K
c.1834G>A
1 paper
NM_001010924.2
p.R613G
c.1837A>G
1 paper
NM_001010924.2
p.A616P
c.1846G>C
1 paper
NM_001010924.2
p.A623A
c.1869C>T
2 papers
NM_001010924.2
p.Q632H
c.1896G>T
2 papers
NM_001010924.2
p.Q632H
c.1896G>C
1 paper
NM_001010924.2
p.R556Q
c.1667G>A
1 paper
NM_001010924.2
p.R550I
c.1649G>T
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