Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTSSA

Variant:p.L64S

SPTSSA

12 papers

RefSeq Summary

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

Pfam Domains

SPT_ssu-likeaa 10–63UCSCSmall subunit of serine palmitoyltransferase-like

Gene Aliases

HGNC Name

serine palmitoyltransferase small subunit A

HGNC Previous Symbol

C14orf147

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:34435226 A>G

NM_138288.4

p.L64S

c.191T>C

Exome: 0.0% (AC=163, hom=0)Genome: 0.0% (AC=12, hom=0)7 overlapping SVs

Surrounding Variants

1 paper

chr14:34435241 T>A

NM_138288.4

p.H59L

c.176A>T

SPT_ssu-like

exact variant not in gnomAD7 overlapping SVs

3 papers

chr14:34435244 TGG>T

NM_138288.4

p.P57_Q58delFs

c.171_172delGG

SPT_ssu-like

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=5, hom=0)7 overlapping SVs

5 papers

chr14:34435265 G>A

NM_138288.4

p.T51I

c.152C>T

SPT_ssu-like

exact variant not in gnomAD7 overlapping SVs

1 paper

chr14:34435281 C>G

NM_138288.4

p.G46R

c.136G>C

SPT_ssu-like

exact variant not in gnomAD7 overlapping SVs

1 paper

chr14:34435281 C>T

NM_138288.4

p.G46R

c.136G>A

SPT_ssu-like

exact variant not in gnomAD7 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."