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.F147Y

c.440T>A

Surrounding Variants

1 paper

NM_001257293.2

p.F147S

c.440T>C

1 paper

NM_001257293.2

p.F147V

c.439T>G

1 paper

NM_001257293.2

p.F147I

c.439T>A

1 paper

NM_001257293.2

p.Q148*

c.442C>T

1 paper

NM_001257293.2

p.Q148K

c.442C>A

1 paper

NM_001257293.2

p.Q148L

c.443A>T

1 paper

NM_001257293.2

p.Q148R

c.443A>G

1 paper

NM_001257293.2

p.D146_F147delFs

c.438_441del4

1 paper

NM_001257293.2

p.Q148H

c.444G>T

1 paper

NM_001257293.2

p.Q148Q

c.444G>A

2 papers

NM_001257293.2

p.G149W

c.445G>T

1 paper

NM_001257293.2

p.G149R

c.445G>C