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

1 paper

NM_020195.3

p.W70fs

c.208_209fs

Surrounding Variants

1 paper

NM_020195.3

p.R69I

c.206G>T

4 papers

NM_020195.3

p.I79L

c.235A>C

2 papers

NM_020195.3

p.V78_I79delins

c.234_235delinsTC

1 paper

NM_020195.3

p.K91Q

c.271A>C

1 paper

NM_020195.3

p.V109delFs

c.325delC

1 paper

NM_020195.3

p.A110Splc

c.328+4C>T

1 paper

NM_020195.3

p.R69I

c.206G>T

1 paper

NM_020195.3

p.N62insFs

c.185_186insAA

1 paper

NM_020195.3

p.E61Q

c.181G>C

2 papers

NM_020195.3

p.A54T

c.160G>A

1 paper

NM_020195.3

p.S47S

c.141G>C

1 paper

NM_020195.3

p.L44R

c.131T>G