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.K13T

c.38A>C

Surrounding Variants

1 paper

NM_020159.5

p.P21S

c.61C>T

1 paper

NM_020159.5

p.E22K

c.64G>A

2 papers

NM_020159.5

p.N2_L3insT

c.4_8ins3

1 paper

NM_020159.5

p.P25A

c.73C>G

1 paper

NM_020159.5

p.M1T

c.2T>C

1 paper

NM_020159.5

p.M1R

c.2T>G

2 papers

NM_020159.5

p.M1insFs

c.2_3insT

1 paper

NM_020159.5

p.M1delFs

c.2delT

1 paper

NM_020159.5

p.S34L

c.101C>T

1 paper

NM_020159.5

p.L38F

c.112C>T

1 paper

NM_020159.5

p.E42insFs

c.125dupA

1 paper

NM_020159.5

p.E42D

c.126G>T