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

1–12 of 35 variants

4 papers

NM_020195.3

p.I79L

c.235A>C

2 papers

NM_020195.3

p.A54T

c.160G>A

2 papers

NM_020195.3

p.V78_I79delins

c.234_235delinsTC

2 papers

NM_020195.3

p.L232F

c.696G>T

2 papers

NM_020195.3

p.L232F

c.696G>C

2 papers

NM_020195.3

p.R238H

c.713G>A

2 papers

NM_020195.3

p.Q270R

c.809A>G

1 paper

NM_020195.3

p.L4V

c.10C>G

1 paper

NM_020195.3

p.I12T

c.35T>C

1 paper

NM_020195.3

p.E26Q

c.76G>C

1 paper

NM_020195.3

p.K33N

c.99G>C

1 paper

NM_020195.3

p.L44R

c.131T>G