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.R233C

c.697C>T

Surrounding Variants

1 paper

NM_001257293.2

p.R233R

c.699T>C

1 paper

NM_001257293.2

p.R233R

c.699T>A

1 paper

NM_001257293.2

p.R232K

c.695G>A

1 paper

NM_001257293.2

p.G234C

c.700G>T

1 paper

NM_001257293.2

p.R232W

c.694A>T

1 paper

NM_001257293.2

p.R232G

c.694A>G

1 paper

NM_001257293.2

p.R232R

c.694A>C

1 paper

NM_001257293.2

p.G234A

c.701G>C

1 paper

NM_001257293.2

p.M231I

c.693G>A

1 paper

NM_001257293.2

p.M231T

c.692T>C

1 paper

NM_001257293.2

p.R230S

c.690G>T

1 paper

NM_001257293.2

p.R230S

c.690G>C