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.E42insFs

c.125dupA

Surrounding Variants

1 paper

NM_020159.5

p.E42D

c.126G>T

1 paper

NM_020159.5

p.E43K

c.127G>A

1 paper

NM_020159.5

p.N44S

c.131A>G

1 paper

NM_020159.5

p.L38F

c.112C>T

1 paper

NM_020159.5

p.G47W

c.139G>T

1 paper

NM_020159.5

p.S34L

c.101C>T

1 paper

NM_020159.5

p.S50S

c.150C>T

1 paper

NM_020159.5

p.A52T

c.154G>A

1 paper

NM_020159.5

p.N53K

c.159C>G

1 paper

NM_020159.5

p.I59insFs

c.175dupA

1 paper

NM_020159.5

p.P25A

c.73C>G

1 paper

NM_020159.5

p.T60_E61insFs

c.180_181insA