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

1–12 of 568 variants

10 papers

NM_001257293.2

p.R206W

c.616C>T

6 papers

NM_001257293.2

p.R206Q

c.617G>A

4 papers

NM_001257293.2

p.P209L

c.626C>T

3 papers

NM_001257293.2

p.R114W

c.340C>T

2 papers

NM_001257293.2

p.F58L

c.174T>A

2 papers

NM_001257293.2

p.E84A

c.251A>C

2 papers

NM_001257293.2

p.I136N

c.407T>A

2 papers

NM_001257293.2

p.N139S

c.416A>G

2 papers

NM_001257293.2

p.G149W

c.445G>T

2 papers

NM_001257293.2

p.R206L

c.617G>T

2 papers

NM_001257293.2

p.Q415fs

c.1243_1244fs

2 papers

NM_001257293.2

p.Q414_Q415insFs

c.1240_1243dup4