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

5 papers

NM_152383.5

p.C489Y

c.1466G>A

Surrounding Variants

1 paper

NM_152383.5

p.C489F

c.1466G>T

1 paper

NM_152383.5

p.I486V

c.1456A>G

1 paper

NM_152383.5

p.T484delFs

c.1452delC

4 papers

NM_152383.5

p.R483Q

c.1448G>A

11 papers

NM_152383.5

p.R483G

c.1447C>G

1 paper

NM_152383.5

p.R483W

c.1447C>T

1 paper

NM_152383.5

p.H496H

c.1488T>C

1 paper

NM_152383.5

p.L477R

c.1430T>G

1 paper

NM_152383.5

p.E506K

c.1516G>A

3 papers

NM_152383.5

p.A510V

c.1529C>T

1 paper

NM_152383.5

p.E512fs

c.1534_1535fs

2 papers

NM_152383.5

p.E523K

c.1567G>A