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.A168D

c.503C>A

Surrounding Variants

1 paper

NM_001257293.2

p.A168G

c.503C>G

1 paper

NM_001257293.2

p.A168A

c.504T>G

1 paper

NM_001257293.2

p.A168A

c.504T>C

1 paper

NM_001257293.2

p.A168A

c.504T>A

1 paper

NM_001257293.2

p.K167N

c.501G>T

1 paper

NM_001257293.2

p.K167K

c.501G>A

1 paper

NM_001257293.2

p.E166*

c.496G>T

1 paper

NM_001257293.2

p.K170K

c.510G>A

1 paper

NM_001257293.2

p.E166K

c.496G>A

1 paper

NM_001257293.2

p.K171N

c.513A>T

1 paper

NM_001257293.2

p.K171K

c.513A>G

1 paper

NM_001257293.2

p.K171N

c.513A>C