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

1–12 of 107 variants

5 papers

NM_203387.3

p.S7_Q11del5

c.19_32del15

4 papers

NM_203387.3

p.L3_D4delFs

c.7_11del5

4 papers

NM_203387.3

p.R188H

c.563G>A

3 papers

NM_203387.3

p.P170L

c.509C>T

2 papers

NM_203387.3

p.C12S

c.34T>A

2 papers

NM_203387.3

p.R19_V33del15

c.55_98del45

2 papers

NM_203387.3

p.V71V

c.213C>T

2 papers

NM_203387.3

p.S155L

c.464C>T

2 papers

NM_203387.3

p.V358M

c.1072G>A

1 paper

NM_203387.3

p.M1T

c.2T>C

1 paper

NM_203387.3

p.M1I

c.3G>A

1 paper

NM_203387.3

p.S2G

c.4A>G