Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1800E

DICER1

1,122 papers

RefSeq Summary

This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and i...

Pfam Domains

DEADaa 45–213UCSCDEAD/DEAH box helicase
Dicer_PBDaa 267–367UCSCDicer, partner-binding domain
Helicase_Caa 471–555UCSCHelicase conserved C-terminal domain
Dicer_dimeraa 630–719UCSCDicer dimerisation domain
Dicer_platformaa 761–887UCSCDicer, platform domain
PAZaa 894–1064UCSCPAZ domain

Gene Aliases

HGNC Name

dicer 1, ribonuclease III

HGNC Previous Symbol

MNG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177438.3
p.E1800E
c.5400G>A
Surrounding Variants
4 papers
NM_177438.3
p.D1801N
c.5401G>A
1 paper
NM_177438.3
p.E1800G
c.5399A>G
3 papers
NM_177438.3
p.E1800Q
c.5398G>C
1 paper
NM_177438.3
p.E1799fs
c.5395_5396fs
1 paper
NM_177438.3
p.E1799*
c.5395G>T
1 paper
NM_177438.3
p.E1799K
c.5395G>A
7 papers
NM_177438.3
p.K1798delFs
c.5394delT
2 papers
NM_177438.3
p.E1799fs
c.5395_5396fs
1 paper
NM_177438.3
p.K1798fs
c.5392_5393fs
2 papers
NM_177438.3
p.E1803K
c.5407G>A
1 paper
NM_177438.3
p.E1803D
c.5409A>T
1 paper
NM_177438.3
p.E1803D
c.5409A>C
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