Varaico: Literature-Extracted Genetic Variants

Gene:FSAF1
Variant:p.I197V

FSAF1

26 papers

Pfam Domains

FSAF1aa 131–256UCSC40S small subunit processome assembly factor 1

Gene Aliases

HGNC Name

40S small subunit processome assembly factor 1

HGNC Previous Symbol

C1orf131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152379.4
p.I197V
c.589A>G
Surrounding Variants
1 paper
NM_152379.4
p.M198V
c.592A>G
1 paper
NM_152379.4
p.R195H
c.584G>A
1 paper
NM_152379.4
p.A201V
c.602C>T
1 paper
NM_152379.4
p.R189K
c.566G>A
1 paper
NM_152379.4
p.K170_A171Splc
c.511-26C>T
1 paper
NM_152379.4
p.Q246H
c.738G>T
1 paper
NM_152379.4
p.E247D
c.741G>T
1 paper
NM_152379.4
p.E247D
c.741G>C
1 paper
NM_152379.4
p.E247_D248del1
c.741_743delTCC
1 paper
NM_152379.4
p.E169K
c.505G>A
2 papers
NM_152379.4
p.K253R
c.758A>G
1 paper
NM_152379.4
p.K254R
c.761A>G
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