Varaico: Literature-Extracted Genetic Variants

DIS3L2

184 papers

RefSeq Summary

The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various ...

Pfam Domains

Rrp44_CSD1aa 47–148UCSCRrp44-like cold shock domain

OB_Dis3aa 265–341UCSCDis3-like cold-shock domain 2 (CSD2)

RNBaa 371–721UCSCRNB domain

Dis3l2_C_termaa 766–855UCSCDIS3-like exonuclease 2 C terminal

Gene Aliases

HGNC Name

DIS3 like 3'-5' exoribonuclease 2

HGNC Previous Symbol

FAM6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152383.5

p.Q70H

c.210G>C

Surrounding Variants

1 paper

NM_152383.5

p.Q70H

c.210G>T

1 paper

NM_152383.5

p.Q70delFs

c.209_210delAG

1 paper

NM_152383.5

p.T67delFs

c.199_200delAC

1 paper

NM_152383.5

p.G62R

c.184G>C

1 paper

NM_152383.5

p.E61V

c.182A>T

1 paper

NM_152383.5

p.E61*

c.181G>T

1 paper

NM_152383.5

p.V59delFs

c.175_176delGT

1 paper

NM_152383.5

p.K56fs

c.166_167fs

1 paper

NM_152383.5

p.K56insFs

c.166_167ins5

1 paper

NM_152383.5

p.F50_E51delFs

c.150_153del4

1 paper

NM_152383.5

p.S48fs

c.142_143fs

1 paper

NM_152383.5

p.K47T

c.140A>C