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.E417K

c.1249G>A

Surrounding Variants

1 paper

NM_020159.5

p.L418L

c.1254C>T

1 paper

NM_020159.5

p.K410E

c.1228A>G

1 paper

NM_020159.5

p.Q409E

c.1225C>G

1 paper

NM_020159.5

p.Q406R

c.1217A>G

1 paper

NM_020159.5

p.P405L

c.1214C>T

1 paper

NM_020159.5

p.G399C

c.1195G>T

1 paper

NM_020159.5

p.L393L

c.1179T>A

1 paper

NM_020159.5

p.K388K

c.1164A>G

1 paper

NM_020159.5

p.G387C

c.1159G>T

1 paper

NM_020159.5

p.M381T

c.1142T>C

1 paper

NM_020159.5

p.S376S

c.1128T>C

1 paper

NM_020159.5

p.K352K

c.1056G>A