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

3 papers

NM_152383.5

p.A101S

c.301G>T

Surrounding Variants

1 paper

NM_152383.5

p.R102H

c.305G>A

1 paper

NM_152383.5

p.R102P

c.305G>C

1 paper

NM_152383.5

p.I94L

c.280A>C

1 paper

NM_152383.5

p.R92*

c.274C>T

1 paper

NM_152383.5

p.E118K

c.352G>A

4 papers

NM_152383.5

p.P88L

c.263C>T

1 paper

NM_152383.5

p.F80Y

c.239T>A

1 paper

NM_152383.5

p.F80_E82delFs

c.239_245del7

2 papers

NM_152383.5

p.Q70_G71Splc

c.211-1G>A