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

1 paper

NM_177438.3

p.K1751fs

c.5251_5252fs

Surrounding Variants

3 papers

NM_177438.3

p.V1750delFs

c.5248delC

1 paper

NM_177438.3

p.V1750L

c.5248G>T

1 paper

NM_177438.3

p.V1750L

c.5248G>C

1 paper

NM_177438.3

p.V1750I

c.5248G>A

1 paper

NM_177438.3

p.K1751_Y1752delFs

c.5251_5255del5

1 paper

NM_177438.3

p.D1753N

c.5257G>A

1 paper

NM_177438.3

p.S1747S

c.5241G>A

5 papers

NM_177438.3

p.S1747L

c.5240C>T

1 paper

NM_177438.3

p.S1747*

c.5240C>A

1 paper

NM_177438.3

p.H1755H

c.5265C>T

1 paper

NM_177438.3

p.A1746T

c.5236G>A

3 papers

NM_177438.3

p.N1741_I1744del0

c.5221_5232del12