Varaico: Literature-Extracted Genetic Variants

STAU2

8q21.11 (UCSC)OMIM GTEx

26 papers

RefSeq Summary

Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organell...

Pfam Domains

dsrmaa 9–72UCSCDouble-stranded RNA binding motif

dsrmaa 131–179UCSCDouble-stranded RNA binding motif

dsrmaa 208–272UCSCDouble-stranded RNA binding motif

dsrmaa 308–373UCSCDouble-stranded RNA binding motif

Staufen_Caa 455–523UCSCStaufen C-terminal domain

Gene Aliases

HGNC Name

staufen double-stranded RNA binding protein 2

HGNC Alias Symbol

39K2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001164380.2

p.N348S

c.1043A>G

Surrounding Variants

NM_001164380.2

p.N364fs

c.1090_1091fs

NM_001164380.2

p.N364fs

c.1090_1091fs

NM_001164380.2

p.N364delFs

c.1091delT