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.K124K

c.372G>A

Surrounding Variants

1 paper

NM_001257293.2

p.K124M

c.371A>T

1 paper

NM_001257293.2

p.K124R

c.371A>G

1 paper

NM_001257293.2

p.K124T

c.371A>C

1 paper

NM_001257293.2

p.S123S

c.369C>T

1 paper

NM_001257293.2

p.S123R

c.369C>G

1 paper

NM_001257293.2

p.S123R

c.369C>A

1 paper

NM_001257293.2

p.S123C

c.367A>T

1 paper

NM_001257293.2

p.V128F

c.382G>T

1 paper

NM_001257293.2

p.G121V

c.362G>T

1 paper

NM_001257293.2

p.G121A

c.362G>C

1 paper

NM_001257293.2

p.V128I

c.382G>A

1 paper

NM_001257293.2

p.G121E

c.362G>A