Varaico: Literature-Extracted Genetic Variants

Gene:SDR42E1

SDR42E1

43 papers

Pfam Domains

3Beta_HSDaa 12–284UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

short chain dehydrogenase/reductase family 42E, member 1

HGNC Alias Symbol

HSPC105

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
4 papers
NM_145168.3
p.Q30*
c.88C>T
2 papers
NM_145168.3
p.E160*
c.478G>T
1 paper
NM_145168.3
p.M1insFs
c.3dupG
1 paper
NM_145168.3
p.D2E
c.6C>A
1 paper
NM_145168.3
p.R23C
c.67C>T
1 paper
NM_145168.3
p.R23C
c.67C>T
1 paper
NM_145168.3
p.Q55E
c.163C>G
1 paper
NM_145168.3
p.E65Q
c.193G>C
1 paper
NM_145168.3
p.H78Y
c.232C>T
1 paper
NM_145168.3
p.G83D
c.248G>A
1 paper
NM_145168.3
p.R87Q
c.260G>A
1 paper
NM_145168.3
p.N91S
c.272A>G
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."