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

4 papers

NM_152383.5

p.S882S

c.2646A>G

Surrounding Variants

2 papers

NM_152383.5

p.E874*

c.2620G>T

2 papers

NM_152383.5

p.K870ins1

c.2608_2609insAGG

1 paper

NM_152383.5

p.K870E

c.2608A>G

1 paper

NM_152383.5

p.K870del1

c.2608_2609delAAG

1 paper

NM_152383.5

p.H865R

c.2594A>G

1 paper

NM_152383.5

p.S854G

c.2560A>G

1 paper

NM_152383.5

p.Q845R

c.2534A>G

1 paper

NM_152383.5

p.S838Fs

c.2513delinsGAFs

1 paper

NM_152383.5

p.F837_S838Fs

c.2510_2513delinsGAFs

1 paper

NM_152383.5

p.Q832_V833Splc

c.2497-122C>T

1 paper

NM_152383.5

p.Q827*

c.2479C>T

1 paper

NM_152383.5

p.T817M

c.2450C>T