Varaico: Literature-Extracted Genetic Variants

Gene:SDR42E1
Variant:p.E205K

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
Selected Variant
1 paper
NM_145168.3
p.E205K
c.613G>A
Surrounding Variants
1 paper
NM_145168.3
p.K206R
c.617A>G
1 paper
NM_145168.3
p.L197P
c.590T>C
1 paper
NM_145168.3
p.V225L
c.673G>T
1 paper
NM_145168.3
p.V225L
c.673G>C
1 paper
NM_145168.3
p.A235S
c.703G>T
1 paper
NM_145168.3
p.A235P
c.703G>C
1 paper
NM_145168.3
p.A241S
c.721G>T
1 paper
NM_145168.3
p.G244S
c.730G>A
2 papers
NM_145168.3
p.E160*
c.478G>T
1 paper
NM_145168.3
p.F253S
c.758T>C
1 paper
NM_145168.3
p.F253delins
c.758_759delinsCT
1 paper
NM_145168.3
p.R154Q
c.461G>A
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