Varaico: Literature-Extracted Genetic Variants

Gene:FAM171A1
Variant:p.V805F

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.V805F
c.2413G>T
Surrounding Variants
1 paper
NM_001010924.2
p.Q796H
c.2388G>T
1 paper
NM_001010924.2
p.Q796H
c.2388G>C
1 paper
NM_001010924.2
p.G819V
c.2456G>T
1 paper
NM_001010924.2
p.G819E
c.2456G>A
2 papers
NM_001010924.2
p.T835M
c.2504C>T
1 paper
NM_001010924.2
p.D867del1
c.2599_2600delGTC
1 paper
NM_001010924.2
p.K878T
c.2633A>C
2 papers
NM_001010924.2
p.*891S
c.2672G>C
1 paper
NM_001010924.2
p.F709L
c.2127C>G
1 paper
NM_001010924.2
p.F709L
c.2127C>A
1 paper
NM_001010924.2
p.F709L
c.2125T>C
1 paper
NM_001010924.2
p.Q686H
c.2058G>T
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