Varaico: Literature-Extracted Genetic Variants

PYCR3

19 papers

RefSeq Summary

This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carb...

Pfam Domains

F420_oxidoredaa 10–104UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 167–271UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 3

HGNC Previous Symbol

PYCRL

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_023078.6

p.G12D

c.35G>A

1 paper

NM_023078.6

p.R18C

c.52C>T

1 paper

NM_023078.6

p.Q52_A53Splc

c.156+2T>C

1 paper

NM_023078.6

p.C69Y

c.206G>A

1 paper

NM_023078.6

p.V105M

c.313G>A

1 paper

NM_023078.6

p.T149_K150delFs

c.445_448del4

1 paper

NM_023078.6

p.L152L

c.454C>T

1 paper

NM_023078.6

p.H154Q

c.462T>A

1 paper

NM_023078.6

p.F183_V184Splc

c.549+1G>A

1 paper

NM_023078.6

p.V184G

c.551T>G