Varaico: Literature-Extracted Genetic Variants

HNRNPH1

115 papers

RefSeq Summary

This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. ...

Pfam Domains

RRM_11aa 13–104UCSCRRM domain

RRM_11aa 113–195UCSCRRM domain

zf-RNPHFaa 255–290UCSCRNPHF zinc finger

RRM_11aa 291–371UCSCRRM domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein H1

HGNC Previous Symbol

HNRPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001257293.2

p.P207fs

c.619_620fs

Surrounding Variants

1 paper

NM_001257293.2

p.P207S

c.619C>T

1 paper

NM_001257293.2

p.R206insFs

c.618dupG

1 paper

NM_001257293.2

p.P207T

c.619C>A

2 papers

NM_001257293.2

p.R206L

c.617G>T

1 paper

NM_001257293.2

p.R206P

c.617G>C

6 papers

NM_001257293.2

p.R206Q

c.617G>A

1 paper

NM_001257293.2

p.P207fs

c.619_620fs

10 papers

NM_001257293.2

p.R206W

c.616C>T

1 paper

NM_001257293.2

p.R206G

c.616C>G

1 paper

NM_001257293.2

p.G208A

c.623G>C

1 paper

NM_001257293.2

p.G208D

c.623G>A

4 papers

NM_001257293.2

p.P209L

c.626C>T