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.R199R

c.597A>G

Surrounding Variants

1 paper

NM_001257293.2

p.P198P

c.594A>T

1 paper

NM_001257293.2

p.P198P

c.594A>G

1 paper

NM_001257293.2

p.M202T

c.605T>C

1 paper

NM_001257293.2

p.M202K

c.605T>A

1 paper

NM_001257293.2

p.P197S

c.589C>T

1 paper

NM_001257293.2

p.P197T

c.589C>A

1 paper

NM_001257293.2

p.M202I

c.606G>T

1 paper

NM_001257293.2

p.M202I

c.606G>A

1 paper

NM_001257293.2

p.A203T

c.607G>A

1 paper

NM_001257293.2

p.A203G

c.608C>G

1 paper

NM_001257293.2

p.H194R

c.581A>G

10 papers

NM_001257293.2

p.R206W

c.616C>T