Varaico: Literature-Extracted Genetic Variants

Gene:SDR42E1
Variant:p.E295_M296delFs

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.E295_M296delFs
c.885_886delTC
Surrounding Variants
1 paper
NM_145168.3
p.F292S
c.875T>C
1 paper
NM_145168.3
p.C289F
c.866G>T
1 paper
NM_145168.3
p.L282L
c.846G>A
1 paper
NM_145168.3
p.P278P
c.834G>T
1 paper
NM_145168.3
p.R267Q
c.800G>A
1 paper
NM_145168.3
p.V260A
c.779T>C
1 paper
NM_145168.3
p.F253delins
c.758_759delinsCT
1 paper
NM_145168.3
p.F253S
c.758T>C
1 paper
NM_145168.3
p.G244S
c.730G>A
1 paper
NM_145168.3
p.A241S
c.721G>T
1 paper
NM_145168.3
p.H355R
c.1064A>G
1 paper
NM_145168.3
p.A235S
c.703G>T
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