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

2 papers

NM_152383.5

p.V123fs

c.367_368fs

Surrounding Variants

1 paper

NM_152383.5

p.K122_V123Splc

c.367-2A>G

1 paper

NM_152383.5

p.V123_V124delFs

c.367_370del4

1 paper

NM_152383.5

p.E127*

c.379G>T

1 paper

NM_152383.5

p.S128I

c.383G>T

7 papers

NM_152383.5

p.Y137C

c.410A>G

1 paper

NM_152383.5

p.P142T

c.424C>A

1 paper

NM_152383.5

p.P142P

c.426C>T

1 paper

NM_152383.5

p.E143*

c.427G>T

1 paper

NM_152383.5

p.L150_Q153del4

c.448_458del12

1 paper

NM_152383.5

p.Q152Q

c.456A>G

1 paper

NM_152383.5

p.V166_E167ins5

c.496_500ins15

1 paper

NM_152383.5

p.E167D

c.501G>C