Varaico: Literature-Extracted Genetic Variants

PYCR1

131 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cel...

Pfam Domains

F420_oxidoredaa 2–98UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 164–268UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 1

HGNC Alias Symbol

P5C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006907.4

p.G4D

c.11G>A

Surrounding Variants

2 papers

NM_006907.4

p.G4V

c.11G>T

1 paper

NM_006907.4

p.S2_V3del2

c.4_8del6

1 paper

NM_006907.4

p.G4fs

c.10_11fs

1 paper

NM_006907.4

p.G4delFs

c.11delC

1 paper

NM_006907.4

p.M1_S2del0

c.1_6del6

1 paper

NM_006907.4

p.I6insFs

c.16_17dupAT

1 paper

NM_006907.4

p.M1delFs

c.2_3delCA

1 paper

NM_006907.4

p.M1I

c.3G>T

2 papers

NM_006907.4

p.M1insFs

c.2dupT

2 papers

NM_006907.4

p.M1I

c.3G>C

1 paper

NM_006907.4

p.M1I

c.3G>A

1 paper

NM_006907.4

p.M1K

c.2T>A