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.E84Q

c.250G>C

Surrounding Variants

1 paper

NM_001257293.2

p.E84*

c.250G>T

1 paper

NM_001257293.2

p.E84K

c.250G>A

1 paper

NM_001257293.2

p.V83V

c.249T>G

1 paper

NM_001257293.2

p.V83V

c.249T>C

1 paper

NM_001257293.2

p.V83V

c.249T>A

1 paper

NM_001257293.2

p.E84V

c.251A>T

1 paper

NM_001257293.2

p.E84G

c.251A>G

2 papers

NM_001257293.2

p.E84A

c.251A>C

1 paper

NM_001257293.2

p.E84D

c.252A>T

1 paper

NM_001257293.2

p.E84E

c.252A>G

1 paper

NM_001257293.2

p.E84D

c.252A>C

1 paper

NM_001257293.2

p.R81I

c.242G>T