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

2 papers

NM_177438.3

p.I1744M

c.5232C>G

Surrounding Variants

3 papers

NM_177438.3

p.N1741_I1744del0

c.5221_5232del12

1 paper

NM_177438.3

p.A1746T

c.5236G>A

3 papers

NM_177438.3

p.N1742_T1743del1

c.5225_5227delTGT

1 paper

NM_177438.3

p.N1742S

c.5225A>G

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.S1747S

c.5241G>A

1 paper

NM_177438.3

p.N1741fs

c.5221_5222fs

1 paper

NM_177438.3

p.N1741D

c.5221A>G

1 paper

NM_177438.3

p.N1741H

c.5221A>C

3 papers

NM_177438.3

p.V1740F

c.5218G>T

2 papers

NM_177438.3

p.V1740I

c.5218G>A