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.P105P

c.315T>A

Surrounding Variants

1 paper

NM_001257293.2

p.P105P

c.315T>G

1 paper

NM_001257293.2

p.P105P

c.315T>C

1 paper

NM_001257293.2

p.D106Y

c.316G>T

1 paper

NM_001257293.2

p.D106H

c.316G>C

1 paper

NM_001257293.2

p.D106N

c.316G>A

1 paper

NM_001257293.2

p.S104_P105del2

c.310_314del6

1 paper

NM_001257293.2

p.P105L

c.314C>T

1 paper

NM_001257293.2

p.P105H

c.314C>A

1 paper

NM_001257293.2

p.P105A

c.313C>G

1 paper

NM_001257293.2

p.S104I

c.311G>T

1 paper

NM_001257293.2

p.S104N

c.311G>A

1 paper

NM_001257293.2

p.T107M

c.320C>T