Varaico: Literature-Extracted Genetic Variants

Gene:STPG1
Variant:p.P190L

STPG1

26 papers

Pfam Domains

SHIPPO-rptaa 147–179UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 187–218UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 187–218UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 225–260UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 266–296UCSCSperm-tail PG-rich repeat

Gene Aliases

HGNC Name

sperm tail PG-rich repeat containing 1

HGNC Previous Symbol

C1orf201

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199013.2
p.P190L
c.569C>T
Surrounding Variants
1 paper
NM_001199013.2
p.T176fs
c.526_527fs
1 paper
NM_001199013.2
p.T176delFs
c.526delT
1 paper
NM_001199013.2
p.N165del1
c.493_494delGTT
1 paper
NM_001199013.2
p.K201delFs
c.602delT
1 paper
NM_001199013.2
p.S209_C210del2
c.625_629del6
1 paper
NM_001199013.2
p.P233S
c.697C>T
1 paper
NM_001199013.2
p.A142V
c.425C>T
1 paper
NM_001199013.2
p.P117P
c.351A>T
1 paper
NM_001199013.2
p.N112K
c.336T>G
1 paper
NM_001199013.2
p.N112K
c.336T>A
1 paper
NM_001199013.2
p.A111T
c.331G>A
1 paper
NM_001199013.2
p.A110V
c.329C>T
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