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

1–12 of 147 variants

4 papers

NM_020159.5

p.V301A

c.902T>C

4 papers

NM_020159.5

p.K528R

c.1583A>G

3 papers

NM_020159.5

p.S247N

c.740G>A

2 papers

NM_020159.5

p.M1insFs

c.2_3insT

2 papers

NM_020159.5

p.N2_L3insT

c.4_8ins3

2 papers

NM_001254949.2

p.M1insFs

c.2_3insT

2 papers

NM_001254949.2

p.S2_K3insT

c.4_8ins3

2 papers

NM_020159.5

p.D613D

c.1839C>T

2 papers

NM_020159.5

p.Q747H

c.2241G>C

1 paper

NM_020159.5

p.M1delFs

c.2delT

1 paper

NM_020159.5

p.M1T

c.2T>C

1 paper

NM_020159.5

p.M1R

c.2T>G