Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.R780S

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
3 papers
NM_014953.5
p.R780S
c.2340A>T
Surrounding Variants
3 papers
NM_014953.5
p.R780S
c.2340A>C
1 paper
NM_014953.5
p.R780I
c.2339G>T
8 papers
NM_014953.5
p.R780T
c.2339G>C
19 papers
NM_014953.5
p.R780K
c.2339G>A
1 paper
NM_014953.5
p.R781T
c.2342G>C
6 papers
NM_014953.5
p.R780G
c.2338A>G
1 paper
NM_014953.5
p.R781Splc
c.2342+1G>A
3 papers
NM_014953.5
p.I779F
c.2335A>T
1 paper
NM_014953.5
p.T776S
c.2327C>G
1 paper
NM_014953.5
p.T776P
c.2326A>C
4 papers
NM_014953.5
p.F775L
c.2325T>G
4 papers
NM_014953.5
p.F775L
c.2325T>A
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