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

6 papers

NM_006907.4

p.G248E

c.743G>A

Surrounding Variants

2 papers

NM_006907.4

p.R251C

c.751C>T

4 papers

NM_006907.4

p.R251H

c.752G>A

1 paper

NM_006907.4

p.S252F

c.755C>T

1 paper

NM_006907.4

p.S252delFs

c.754delA

1 paper

NM_006907.4

p.H243R

c.728A>G

1 paper

NM_006907.4

p.L254F

c.760C>T

3 papers

NM_006907.4

p.A241V

c.722C>T

1 paper

NM_006907.4

p.A241D

c.722C>A

1 paper

NM_006907.4

p.H240Y

c.718C>T

2 papers

NM_006907.4

p.A257T

c.769G>A

1 paper

NM_006907.4

p.V258L

c.772G>T

1 paper

NM_006907.4

p.V258L

c.772G>C