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.S233A

c.697T>G

Surrounding Variants

1 paper

NM_006907.4

p.S232N

c.695G>A

1 paper

NM_006907.4

p.V231F

c.691G>T

1 paper

NM_006907.4

p.V231I

c.691G>A

1 paper

NM_006907.4

p.D229Y

c.685G>T

1 paper

NM_006907.4

p.K228R

c.683A>G

2 papers

NM_006907.4

p.T238A

c.712A>G

1 paper

NM_006907.4

p.K228Q

c.682A>C

1 paper

NM_006907.4

p.G236_T238del0

c.708_713del6

1 paper

NM_006907.4

p.H240Y

c.718C>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.H243R

c.728A>G