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.Q415fs

c.1243_1244fs

Surrounding Variants

2 papers

NM_001257293.2

p.Q414_Q415insFs

c.1240_1243dup4

1 paper

NM_001257293.2

p.Q415fs

c.1243_1244fs

1 paper

NM_001257293.2

p.G421R

c.1261G>A

1 paper

NM_001257293.2

p.G421A

c.1262G>C

1 paper

NM_001257293.2

p.Y408F

c.1223A>T

1 paper

NM_001257293.2

p.Y408S

c.1223A>C

1 paper

NM_001257293.2

p.G422A

c.1265G>C

1 paper

NM_001257293.2

p.G426C

c.1276G>T

1 paper

NM_001257293.2

p.G426A

c.1277G>C

1 paper

NM_001257293.2

p.Q435Q

c.1305A>G

1 paper

NM_001257293.2

p.N440I

c.1319A>T

1 paper

NM_001257293.2

p.Q445E

c.1333C>G