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

1 paper

NM_005826.5

p.A2G

c.5C>G

Surrounding Variants

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

1 paper

NM_005826.5

p.P39L

c.116C>T

1 paper

NM_005826.5

p.R69delFs

c.205_206delCT

1 paper

NM_005826.5

p.A76S

c.226G>T

1 paper

NM_005826.5

p.F83F

c.249C>T

1 paper

NM_005826.5

p.E85K

c.253G>A

1 paper

NM_005826.5

p.S86N

c.257G>A

1 paper

NM_005826.5

p.Q92_N93Splc

c.276+1G>A

1 paper

NM_005826.5

p.Q92_N93Splc

c.276+168A>G

1 paper

NM_005826.5

p.G164R

c.490G>C