Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.L739V

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.L739V
c.2215C>G
Surrounding Variants
1 paper
NM_014953.5
p.L739L
c.2217G>T
1 paper
NM_014953.5
p.N737delFs
c.2209_2210delTT
1 paper
NM_014953.5
p.Y735F
c.2204A>T
1 paper
NM_014953.5
p.T745I
c.2234C>T
1 paper
NM_014953.5
p.T745T
c.2235T>G
1 paper
NM_014953.5
p.T745T
c.2235T>A
2 papers
NM_014953.5
p.R746H
c.2237G>A
1 paper
NM_014953.5
p.E729*
c.2185G>T
3 papers
NM_014953.5
p.E729K
c.2185G>A
1 paper
NM_014953.5
p.M749L
c.2245A>T
1 paper
NM_014953.5
p.Q727L
c.2180A>T
1 paper
NM_014953.5
p.Q750H
c.2250A>C
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