Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.L495P

DIS3

277 papers

Pfam Domains

Rrp44_CSD1aa 63–189UCSCRrp44-like cold shock domain
PIN_4aa 66–195UCSCPIN domain
OB_Dis3aa 208–276UCSCDis3-like cold-shock domain 2 (CSD2)
RNBaa 305–634UCSCRNB domain
Rrp44_S1aa 684–763UCSCS1 domain

Gene Aliases

HGNC Name

DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease

HGNC Previous Symbol

KIAA1008

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014953.5
p.L495P
c.1484T>C
Surrounding Variants
1 paper
NM_014953.5
p.E496K
c.1486G>A
1 paper
NM_014953.5
p.E501K
c.1501G>A
1 paper
NM_014953.5
p.E501A
c.1502A>C
3 papers
NM_014953.5
p.D488G
c.1463A>G
3 papers
NM_014953.5
p.D488A
c.1463A>C
1 paper
NM_014953.5
p.D488Y
c.1462G>T
2 papers
NM_014953.5
p.D488H
c.1462G>C
25 papers
NM_014953.5
p.D488N
c.1462G>A
4 papers
NM_014953.5
p.D487V
c.1460A>T
1 paper
NM_014953.5
p.D487_D488insA
c.1459_1463ins3
5 papers
NM_014953.5
p.D487H
c.1459G>C
7 papers
NM_014953.5
p.D487N
c.1459G>A
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