Varaico: Literature-Extracted Genetic Variants

HNRNPR

66 papers

RefSeq Summary

This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-f...

Pfam Domains

RRM_1aa 28–96UCSCRNA recognition motif

hnRNP_Q_AcDaa 37–106UCSCHeterogeneous nuclear ribonucleoprotein Q acidic domain

RRM_1aa 109–176UCSCRNA recognition motif

RRM_1aa 204–266UCSCRNA recognition motif

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein R

HGNC Previous Symbol

HNRPR

Papers

RefSeq ID

Protein change

DNA change

1–12 of 71 variants

2 papers

NM_001102398.3

p.Q427P

c.1280A>C

2 papers

NM_001102398.3

p.G457R

c.1369G>C

2 papers

NM_001102398.3

p.G457R

c.1369G>A

2 papers

NM_005826.5

p.Y460D

c.1378T>G

2 papers

NM_001102398.3

p.A514T

c.1540G>A

2 papers

NM_001102398.3

p.A537fs

c.1609_1610fs

2 papers

NM_001102398.3

p.A537insFs

c.1609dupG

2 papers

NM_005826.5

p.R585H

c.1754G>A

1 paper

NM_005826.5

p.A2G

c.5C>G

1 paper

NM_005826.5

p.P18Q

c.53C>A

1 paper

NM_005826.5

p.T21A

c.61A>G

1 paper

NM_005826.5

p.V24insFs

c.72dupA