Varaico: Literature-Extracted Genetic Variants

HNRNPK

207 papers

RefSeq Summary

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnR...

Pfam Domains

ROKNTaa 1–43UCSCROKNT (NUC014) domain

KH_1aa 44–105UCSCKH domain

KH_1aa 146–211UCSCKH domain

KH_1aa 389–453UCSCKH domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein K

HGNC Previous Symbol

HNRPK

Papers

RefSeq ID

Protein change

DNA change

1–12 of 229 variants

7 papers

NM_031263.4

p.R86H

c.257G>A

7 papers

NM_031263.4

p.P311insFs

c.931_932insTT

5 papers

NM_031263.4

p.R287*

c.859C>T

5 papers

NM_031263.4

p.P311fs

c.931_932fs

5 papers

NM_031263.4

p.Y333insFs

c.998dupA

4 papers

NM_031263.4

p.Y333*

c.999C>G

4 papers

NM_031263.4

p.Y333*

c.999C>A

3 papers

NM_031263.4

p.E29insFs

c.85_86insG

3 papers

NM_031263.4

p.K52_N53Splc

c.157-10T>G

3 papers

NM_031263.4

p.G59E

c.176G>A

3 papers

NM_031263.4

p.E85K

c.253G>A

3 papers

NM_031263.4

p.R86Splc

c.257+5G>A