Varaico: Literature-Extracted Genetic Variants

RNH1

182 papers

RefSeq Summary

Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summari...

Pfam Domains

LRR_RI_cappingaa 1–35UCSCCapping Ribonuclease inhibitor Leucine Rich Repeat

LRR_6aa 111–134UCSCLeucine Rich repeat

LRR_6aa 396–419UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

ribonuclease/angiogenin inhibitor 1

HGNC Previous Name

ribonuclease/angiogenin inhibitor

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203387.3

p.K46E

c.136A>G

Surrounding Variants

1 paper

NM_203387.3

p.A43P

c.127G>C

1 paper

NM_203387.3

p.E42K

c.124G>A

1 paper

NM_203387.3

p.C38W

c.114T>G

1 paper

NM_203387.3

p.C38S

c.112T>A

1 paper

NM_203387.3

p.V54A

c.161T>C

1 paper

NM_203387.3

p.L35L

c.105G>C

1 paper

NM_203387.3

p.L35P

c.104T>C

1 paper

NM_203387.3

p.E60*

c.178G>T

1 paper

NM_203387.3

p.E67A

c.200A>C

1 paper

NM_203387.3

p.G69D

c.206G>A

2 papers

NM_203387.3

p.V71V

c.213C>T

1 paper

NM_203387.3

p.C75G

c.223T>G