Varaico: Literature-Extracted Genetic Variants

Gene:SART1
Variant:p.S112S

SART1

115 papers

RefSeq Summary

This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The S...

Pfam Domains

HINDaa 115–139UCSCHIND motif
SART-1aa 165–753UCSCSART-1 family

Gene Aliases

HGNC Name

spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP

HGNC Alias Symbols

Ara1; Snu66; SNRNP110; HAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005146.5
p.S112S
c.336A>G
Surrounding Variants
1 paper
NM_005146.5
p.S112T
c.334T>A
1 paper
NM_005146.5
p.I120M
c.360C>G
1 paper
NM_005146.5
p.A128E
c.383C>A
1 paper
NM_005146.5
p.K141R
c.422A>G
1 paper
NM_005146.5
p.K142N
c.426G>C
1 paper
NM_005146.5
p.K142N
c.426G>T
1 paper
NM_005146.5
p.A144V
c.431C>T
1 paper
NM_005146.5
p.P150_A153del4
c.448_458del12
2 papers
NM_005146.5
p.A160V
c.479C>T
2 papers
NM_005146.5
p.R162Q
c.485G>A
1 paper
NM_005146.5
p.R168W
c.502C>T
1 paper
NM_005146.5
p.A172T
c.514G>A
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