Varaico: Literature-Extracted Genetic Variants

SDR39U1

32 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with simil...

Pfam Domains

Epimeraseaa 3–216UCSCNAD dependent epimerase/dehydratase family

DUF1731aa 136–183UCSCDomain of unknown function (DUF1731)

Gene Aliases

HGNC Name

short chain dehydrogenase/reductase family 39U member 1

HGNC Previous Symbol

C14orf124

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020195.3

p.Q270R

c.809A>G

Surrounding Variants

1 paper

NM_020195.3

p.R255Q

c.764G>A

2 papers

NM_020195.3

p.R238H

c.713G>A

2 papers

NM_020195.3

p.L232F

c.696G>T

2 papers

NM_020195.3

p.L232F

c.696G>C

1 paper

NM_020195.3

p.P220S

c.658C>T

1 paper

NM_020195.3

p.D197Y

c.589G>T

1 paper

NM_020195.3

p.Q188R

c.563A>G

1 paper

NM_020195.3

p.G181fs

c.541_542fs

1 paper

NM_020195.3

p.G181C

c.541G>T

1 paper

NM_020195.3

p.G165fs

c.493_494fs

1 paper

NM_020195.3

p.R163P

c.488G>C

1 paper

NM_020195.3

p.R151H

c.452G>A