Varaico: Literature-Extracted Genetic Variants

Gene:DIS3
Variant:p.R382Q

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
8 papers
NM_014953.5
p.R382Q
c.1145G>A
Surrounding Variants
1 paper
NM_014953.5
p.R382*
c.1144C>T
3 papers
NM_014953.5
p.R384C
c.1150C>T
1 paper
NM_014953.5
p.I380S
c.1139T>G
1 paper
NM_014953.5
p.R384L
c.1151G>T
1 paper
NM_001128226.3
p.K348E
c.1042A>G
1 paper
NM_014953.5
p.R388G
c.1162A>G
1 paper
NM_014953.5
p.A390P
c.1168G>C
1 paper
NM_014953.5
p.L372P
c.1115T>C
2 papers
NM_014953.5
p.E394K
c.1180G>A
1 paper
NM_014953.5
p.R369G
c.1105A>G
1 paper
NM_014953.5
p.V400I
c.1198G>A
4 papers
NM_014953.5
p.A401V
c.1202C>T
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