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.L194P

c.581T>C

Surrounding Variants

1 paper

NM_203387.3

p.L190L

c.570G>A

4 papers

NM_203387.3

p.R188H

c.563G>A

1 paper

NM_203387.3

p.G186G

c.558C>T

1 paper

NM_203387.3

p.E184K

c.550G>A

1 paper

NM_203387.3

p.D181E

c.543C>G

1 paper

NM_203387.3

p.D181E

c.543C>A

1 paper

NM_203387.3

p.T176M

c.527C>T

1 paper

NM_203387.3

p.E174K

c.520G>A

3 papers

NM_203387.3

p.P170L

c.509C>T

1 paper

NM_203387.3

p.L166insFs

c.497_498insA

1 paper

NM_203387.3

p.K205Splc

c.615-2A>C

2 papers

NM_203387.3

p.S155L

c.464C>T