Varaico: Literature-Extracted Genetic Variants

SMARCAD1

94 papers

RefSeq Summary

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic pattern...

Pfam Domains

SNF2-rel_domaa 500–787UCSCSNF2-related domain

Helicase_Caa 854–967UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

SNF2 related chromatin remodeling ATPase with DExD box 1

HGNC Alias Symbols

ETL1; DKFZP762K2015; KIAA1122; DKFZp762K2015

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020159.5

p.K433R

c.1298A>G

Surrounding Variants

2 papers

NM_001254949.2

p.S2_K3insT

c.4_8ins3

1 paper

NM_001254949.2

p.M1T

c.2T>C

1 paper

NM_001254949.2

p.M1R

c.2T>G

2 papers

NM_001254949.2

p.M1insFs

c.2_3insT

1 paper

NM_001254949.2

p.M1delFs

c.2delT

1 paper

NM_020159.5

p.K430K

c.1290G>A

1 paper

NM_020159.5

p.G436A

c.1307G>C

1 paper

NM_020159.5

p.D440G

c.1319A>G

1 paper

NM_020159.5

p.V473D

c.1418T>A

1 paper

NM_020159.5

p.T474I

c.1421C>T

1 paper

NM_020159.5

p.G482A

c.1445G>C

1 paper

NM_020159.5

p.K498E

c.1492A>G