Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.R276C

SDR9C7

47 papers

RefSeq Summary

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010].

Pfam Domains

adh_shortaa 26–218UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

short chain dehydrogenase/reductase family 9C member 7

HGNC Alias Symbols

SDR-O; RDHS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_148897.3
p.R276C
c.826C>T
Surrounding Variants
1 paper
NM_148897.3
p.I275I
c.825C>T
1 paper
NM_148897.3
p.Y277_N278delFs
c.831_832delTG
1 paper
NM_148897.3
p.L286F
c.856C>T
1 paper
NM_148897.3
p.R256_V257delFs
c.768_769delCT
1 paper
NM_148897.3
p.R256fs
c.766_767fs
1 paper
NM_148897.3
p.V297L
c.889G>T
1 paper
NM_148897.3
p.V297L
c.889G>C
1 paper
NM_148897.3
p.F300fs
c.898_899fs
1 paper
NM_148897.3
p.D299delFs
c.897delA
1 paper
NM_148897.3
p.P307A
c.919C>G
1 paper
NM_148897.3
p.Y242Splc
c.725-69T>C
1 paper
NM_148897.3
p.G235E
c.704G>A
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