Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.A675V

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.A675V
c.2024C>T
Surrounding Variants
1 paper
NM_014953.5
p.K676E
c.2026A>G
1 paper
NM_014953.5
p.K676Q
c.2026A>C
1 paper
NM_014953.5
p.V674L
c.2020G>C
1 paper
NM_014953.5
p.I678insFs
c.2032dupA
1 paper
NM_014953.5
p.I672S
c.2015T>G
2 papers
NM_014953.5
p.I678delFs
c.2032delT
4 papers
NM_014953.5
p.I678fs
c.2032_2033fs
1 paper
NM_014953.5
p.H679R
c.2036A>G
1 paper
NM_014953.5
p.H679P
c.2036A>C
1 paper
NM_014953.5
p.N671H
c.2011A>C
1 paper
NM_014953.5
p.A670V
c.2009C>T
1 paper
NM_014953.5
p.A670D
c.2009C>A
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