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

1–12 of 231 variants

11 papers

NM_152383.5

p.R483G

c.1447C>G

7 papers

NM_152383.5

p.Y137C

c.410A>G

7 papers

NM_152383.5

p.D391N

c.1171G>A

5 papers

NM_152383.5

p.C489Y

c.1466G>A

4 papers

NM_152383.5

p.P88L

c.263C>T

4 papers

NM_152383.5

p.R483Q

c.1448G>A

4 papers

NM_152383.5

p.S882S

c.2646A>G

3 papers

NM_152383.5

p.P12S

c.34C>T

3 papers

NM_152383.5

p.A101S

c.301G>T

3 papers

NM_152383.5

p.D389N

c.1165G>A

3 papers

NM_152383.5

p.A510V

c.1529C>T

3 papers

NM_152383.5

p.L551ins1

c.1651_1652insGGG