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

4 papers

NM_020159.5

p.V301A

c.902T>C

Surrounding Variants

1 paper

NM_020159.5

p.S302A

c.904T>G

1 paper

NM_020159.5

p.G309R

c.925G>A

1 paper

NM_020159.5

p.Q317H

c.951A>C

1 paper

NM_020159.5

p.Q317H

c.951A>T

1 paper

NM_020159.5

p.N318T

c.953A>C

1 paper

NM_020159.5

p.A323G

c.968C>G

1 paper

NM_020159.5

p.T324N

c.971C>A

1 paper

NM_020159.5

p.T326I

c.977C>T

1 paper

NM_020159.5

p.N347delFs

c.1040delA

1 paper

NM_020159.5

p.N347fs

c.1039_1040fs

1 paper

NM_020159.5

p.N347fs

c.1039_1040fs

1 paper

NM_020159.5

p.V348fs

c.1042_1043fs