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

2 papers

NM_001257293.2

p.N139S

c.416A>G

Surrounding Variants

1 paper

NM_001257293.2

p.N139I

c.416A>T

1 paper

NM_001257293.2

p.N139T

c.416A>C

1 paper

NM_001257293.2

p.G140A

c.419G>C

1 paper

NM_001257293.2

p.P138S

c.412C>T

1 paper

NM_001257293.2

p.P138T

c.412C>A

2 papers

NM_001257293.2

p.I136N

c.407T>A

1 paper

NM_001257293.2

p.L134F

c.402G>T

1 paper

NM_001257293.2

p.L134L

c.402G>A

1 paper

NM_001257293.2

p.L134W

c.401T>G

1 paper

NM_001257293.2

p.L134S

c.401T>C

1 paper

NM_001257293.2

p.L134*

c.401T>A

1 paper

NM_001257293.2

p.P144R

c.431C>G