Varaico: Literature-Extracted Genetic Variants

PYCR2

62 papers

RefSeq Summary

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline b...

Pfam Domains

F420_oxidoredaa 2–98UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 93–194UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 2

HGNC Alias Symbol

P5CR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_013328.4

p.C232G

c.694T>G

Surrounding Variants

1 paper

NM_013328.4

p.S233A

c.697T>G

1 paper

NM_013328.4

p.G235E

c.704G>A

1 paper

NM_013328.4

p.G236V

c.707G>T

1 paper

NM_013328.4

p.T238A

c.712A>G

1 paper

NM_013328.4

p.T238N

c.713C>A

1 paper

NM_013328.4

p.E221A

c.662A>C

1 paper

NM_013328.4

p.E246insFs

c.737_738insA

1 paper

NM_013328.4

p.S247fs

c.739_740fs

2 papers

NM_013328.4

p.M216R

c.647T>G

1 paper

NM_013328.4

p.G249fs

c.745_746fs

2 papers

NM_013328.4

p.G249V

c.746G>T

1 paper

NM_013328.4

p.G249fs

c.745_746fs