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

1 paper

NM_013328.4

p.S247fs

c.739_740fs

Surrounding Variants

1 paper

NM_013328.4

p.E246insFs

c.737_738insA

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

1 paper

NM_013328.4

p.G248delFs

c.742delC

9 papers

NM_013328.4

p.R251C

c.751C>T

1 paper

NM_013328.4

p.R251H

c.752G>A

1 paper

NM_013328.4

p.T238N

c.713C>A

1 paper

NM_013328.4

p.T238A

c.712A>G

1 paper

NM_013328.4

p.N256H

c.766A>C

1 paper

NM_013328.4

p.G236V

c.707G>T

4 papers

NM_013328.4

p.V258A

c.773T>C