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.E287K

c.859G>A

Surrounding Variants

1 paper

NM_020159.5

p.Y282Y

c.846C>T

1 paper

NM_020159.5

p.A293V

c.878C>T

1 paper

NM_020159.5

p.L275L

c.825C>G

1 paper

NM_020159.5

p.E262G

c.785A>G

1 paper

NM_020159.5

p.Q260R

c.779A>G

1 paper

NM_020159.5

p.Q252P

c.755A>C

1 paper

NM_020159.5

p.S247R

c.741T>A

1 paper

NM_020159.5

p.S247R

c.741T>G

3 papers

NM_020159.5

p.S247N

c.740G>A

1 paper

NM_020159.5

p.S247R

c.739A>C

1 paper

NM_020159.5

p.S246S

c.738C>T

1 paper

NM_020159.5

p.S242P

c.724T>C