Varaico: Literature-Extracted Genetic Variants

HNRNPU

414 papers

RefSeq Summary

This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encod...

Pfam Domains

SAPaa 7–43UCSCSAP domain

SPRYaa 347–462UCSCSPRY domain

AAA_33aa 499–643UCSCAAA domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein U

HGNC Previous Symbols

HNRPU; HNRNPU-AS1; C1orf199; NCRNA00201

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_031844.3

p.Q273*

c.817C>T

Surrounding Variants

1 paper

NM_031844.3

p.P272_P274Fs

c.815_820delinsGFs

1 paper

NM_031844.3

p.P274L

c.821C>T

1 paper

NM_031844.3

p.S271A

c.811T>G

1 paper

NM_031844.3

p.E277K

c.829G>A

1 paper

NM_031844.3

p.E279G

c.836A>G

1 paper

NM_031844.3

p.E279D

c.837A>T

1 paper

NM_031844.3

p.E279D

c.837A>C

7 papers

NM_031844.3

p.E279del1

c.835_836delTTC

1 paper

NM_031844.3

p.E281_H282ins6

c.841_845ins18

4 papers

NM_031844.3

p.F283fs

c.847_848fs

5 papers

NM_031844.3

p.F283_T286delFs

c.847_857del11

1 paper

NM_031844.3

p.C289R

c.865T>C