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.S132P

c.394T>C

Surrounding Variants

1 paper

NM_001257293.2

p.S132A

c.394T>G

1 paper

NM_001257293.2

p.S132T

c.394T>A

1 paper

NM_001257293.2

p.F131F

c.393C>T

1 paper

NM_001257293.2

p.F131L

c.393C>G

1 paper

NM_001257293.2

p.F131L

c.393C>A

1 paper

NM_001257293.2

p.F131S

c.392T>C

1 paper

NM_001257293.2

p.F131Y

c.392T>A

1 paper

NM_001257293.2

p.F130C

c.389T>G

1 paper

NM_001257293.2

p.F130S

c.389T>C

1 paper

NM_001257293.2

p.F130Y

c.389T>A

1 paper

NM_001257293.2

p.Q129H

c.387G>T

1 paper

NM_001257293.2

p.Q129Q

c.387G>A