Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_177438.3

p.E1843Splc

c.5527+3A>G

Surrounding Variants

2 papers

NM_177438.3

p.E1843Splc

c.5527+2T>C

1 paper

NM_177438.3

p.E1843*

c.5527G>T

2 papers

NM_177438.3

p.E1843K

c.5527G>A

2 papers

NM_177438.3

p.E1843Splc

c.5527+7T>A

1 paper

NM_177438.3

p.I1842V

c.5524A>G

2 papers

NM_177438.3

p.L1841L

c.5521C>T

1 paper

NM_177438.3

p.P1840P

c.5520A>G

1 paper

NM_177438.3

p.R1839R

c.5517G>T

3 papers

NM_177438.3

p.R1839Q

c.5516G>A

7 papers

NM_177438.3

p.R1839W

c.5515C>T

1 paper

NM_177438.3

p.M1837I

c.5511G>T

2 papers

NM_177438.3

p.M1837fs

c.5509_5510fs