Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.L767F

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
5 papers
NM_014953.5
p.L767F
c.2301A>C
Surrounding Variants
5 papers
NM_014953.5
p.L767F
c.2301A>T
1 paper
NM_014953.5
p.A768V
c.2303C>T
4 papers
NM_014953.5
p.G766R
c.2296G>C
2 papers
NM_014953.5
p.H764R
c.2291A>G
1 paper
NM_014953.5
p.H764P
c.2291A>C
1 paper
NM_014953.5
p.I771delins
c.2312_2313delinsAA
2 papers
NM_014953.5
p.H764Y
c.2290C>T
2 papers
NM_014953.5
p.H764D
c.2290C>G
1 paper
NM_014953.5
p.Y772H
c.2314T>C
1 paper
NM_014953.5
p.F762S
c.2285T>C
2 papers
NM_014953.5
p.T773I
c.2318C>T
1 paper
NM_014953.5
p.H774Y
c.2320C>T
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