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.V126I

c.376G>A

Surrounding Variants

2 papers

NM_006907.4

p.R129Q

c.386G>A

7 papers

NM_006907.4

p.R119H

c.356G>A

7 papers

NM_006907.4

p.R119C

c.355C>T

7 papers

NM_006907.4

p.R119G

c.355C>G

1 paper

NM_006907.4

p.I118delFs

c.353_354delGA

1 paper

NM_006907.4

p.T133P

c.397A>C

1 paper

NM_006907.4

p.T133insFs

c.397_398ins8

1 paper

NM_006907.4

p.V117F

c.349G>T

1 paper

NM_006907.4

p.R116fs

c.346_347fs

1 paper

NM_006907.4

p.Y135F

c.404A>T

2 papers

NM_006907.4

p.R116fs

c.346_347fs

7 papers

NM_006907.4

p.P115delFs

c.345delG