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.D34A

c.101A>C

Surrounding Variants

1 paper

NM_152383.5

p.D34N

c.100G>A

1 paper

NM_152383.5

p.P32S

c.94C>T

1 paper

NM_152383.5

p.R40M

c.119G>T

1 paper

NM_152383.5

p.R43*

c.127C>T

1 paper

NM_152383.5

p.G44V

c.131G>T

1 paper

NM_152383.5

p.S48delFs

c.142_143delAG

1 paper

NM_152383.5

p.K47T

c.140A>C

1 paper

NM_152383.5

p.S48fs

c.142_143fs

1 paper

NM_152383.5

p.V19M

c.55G>A

1 paper

NM_152383.5

p.F50_E51delFs

c.150_153del4

1 paper

NM_152383.5

p.K56insFs

c.166_167ins5

1 paper

NM_152383.5

p.K56fs

c.166_167fs