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.M78I

c.234G>T

Surrounding Variants

1 paper

NM_001257293.2

p.M78I

c.234G>C

1 paper

NM_001257293.2

p.M78I

c.234G>A

1 paper

NM_001257293.2

p.G79*

c.235G>T

1 paper

NM_001257293.2

p.G79R

c.235G>C

1 paper

NM_001257293.2

p.G79R

c.235G>A

1 paper

NM_001257293.2

p.G79A

c.236G>C

1 paper

NM_001257293.2

p.M78L

c.232A>T

1 paper

NM_001257293.2

p.M78V

c.232A>G

1 paper

NM_001257293.2

p.M78L

c.232A>C

1 paper

NM_001257293.2

p.H80Y

c.238C>T

1 paper

NM_001257293.2

p.R81I

c.242G>T

1 paper

NM_001257293.2

p.R81T

c.242G>C