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.K528R

c.1583A>G

Surrounding Variants

1 paper

NM_020159.5

p.A532G

c.1595C>G

1 paper

NM_020159.5

p.A534V

c.1601C>T

1 paper

NM_020159.5

p.Y538H

c.1612T>C

1 paper

NM_020159.5

p.N589H

c.1765A>C

1 paper

NM_020159.5

p.Y597Y

c.1791C>T

1 paper

NM_020159.5

p.V601L

c.1801G>C

1 paper

NM_020159.5

p.V601L

c.1801G>T

2 papers

NM_020159.5

p.D613D

c.1839C>T

1 paper

NM_020159.5

p.R614C

c.1840C>T

1 paper

NM_020159.5

p.N517Y

c.1549A>T

1 paper

NM_020159.5

p.L516F

c.1546C>T

1 paper

NM_020159.5

p.N648N

c.1944T>C