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.R34R

c.100A>C

Surrounding Variants

1 paper

NM_203387.3

p.R34G

c.100A>G

2 papers

NM_203387.3

p.R19_V33del15

c.55_98del45

1 paper

NM_203387.3

p.Q29P

c.86A>C

1 paper

NM_203387.3

p.Q28L

c.83A>T

1 paper

NM_203387.3

p.L27F

c.79C>T

1 paper

NM_203387.3

p.L27V

c.79C>G

1 paper

NM_203387.3

p.P25R

c.74C>G

1 paper

NM_203387.3

p.P25H

c.74C>A

1 paper

NM_203387.3

p.E22D

c.66G>C

1 paper

NM_203387.3

p.E22K

c.64G>A

1 paper

NM_203387.3

p.A18S

c.52G>T

1 paper

NM_203387.3

p.E14*

c.40G>T