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

8 papers

NM_006907.4

p.R266Q

c.797G>A

Surrounding Variants

1 paper

NM_001282281.2

p.D300N

c.898G>A

1 paper

NM_006907.4

p.Q276*

c.826C>T

1 paper

NM_006907.4

p.A281T

c.841G>A

1 paper

NM_006907.4

p.A281V

c.842C>T

4 papers

NM_006907.4

p.K289R

c.866A>G

1 paper

NM_006907.4

p.L292P

c.875T>C

4 papers

NM_006907.4

p.G297R

c.889G>C

4 papers

NM_006907.4

p.G297R

c.889G>A

1 paper

NM_006907.4

p.A299T

c.895G>A

1 paper

NM_006907.4

p.L300P

c.899T>C

1 paper

NM_006907.4

p.S301A

c.901T>G

1 paper

NM_006907.4

p.S301L

c.902C>T