Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTSSB

Variant:p.F64L

SPTSSB

8 papers

RefSeq Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers...

Pfam Domains

SPT_ssu-likeaa 7–60UCSCSmall subunit of serine palmitoyltransferase-like

Gene Aliases

HGNC Name

serine palmitoyltransferase small subunit B

HGNC Previous Symbol

C3orf57

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:161346132 G>C

NM_001040100.2

p.F64L

c.192C>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

Surrounding Variants

1 paper

chr3:161346132 G>T

NM_001040100.2

p.F64L

c.192C>A

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:161346134 A>G

NM_001040100.2

p.F64L

c.190T>C

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:161346157 T>A

NM_001040100.2

p.H56L

c.167A>T

SPT_ssu-like

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:161346308 C>A

NM_001040100.2

p.V6L

c.16G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a62 overlapping SVs

1 paper

chr3:161346308 C>G

NM_001040100.2

p.V6L

c.16G>C

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:161346316 A>C

NM_001040100.2

p.L3W

c.8T>G

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."