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

Selected Variant

2 papers

NM_001102398.3

p.A537insFs

c.1609dupG

Surrounding Variants

1 paper

NM_001102398.3

p.A537G

c.1610C>G

2 papers

NM_001102398.3

p.A537fs

c.1609_1610fs

1 paper

NM_005826.5

p.G537insFs

c.1609dupG

1 paper

NM_005826.5

p.S542insFs

c.1624dupT

1 paper

NM_005826.5

p.R546G

c.1636A>G

1 paper

NM_005826.5

p.P521_P522insFs

c.1563_1564insT

1 paper

NM_001102398.3

p.G551insFs

c.1652dupG

1 paper

NM_005826.5

p.A520S

c.1558G>T

1 paper

NM_001102398.3

p.P552fs

c.1654_1655fs

1 paper

NM_001102398.3

p.P552S

c.1654C>T

1 paper

NM_001102398.3

p.Q555*

c.1663C>T

1 paper

NM_005826.5

p.P515delFs

c.1545delT