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

2 papers

NM_203387.3

p.V358M

c.1072G>A

Surrounding Variants

1 paper

NM_203387.3

p.I348_E354delFs

c.1043_1061del19

1 paper

NM_203387.3

p.L353P

c.1058T>C

1 paper

NM_203387.3

p.I348fs

c.1042_1043fs

1 paper

NM_203387.3

p.P368L

c.1103C>T

1 paper

NM_203387.3

p.G369delFs

c.1105delC

1 paper

NM_203387.3

p.R373W

c.1117C>T

1 paper

NM_203387.3

p.S334I

c.1001G>T

1 paper

NM_203387.3

p.A327T

c.979G>A

1 paper

NM_203387.3

p.L296P

c.887T>C

1 paper

NM_203387.3

p.A292V

c.875C>T

1 paper

NM_203387.3

p.L289F

c.865C>T

1 paper

NM_203387.3

p.L286V

c.856C>G