Varaico: Literature-Extracted Genetic Variants

SMARCA1

177 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involve...

Pfam Domains

SNF2-rel_domaa 186–465UCSCSNF2-related domain

Helicase_Caa 486–600UCSCHelicase conserved C-terminal domain

HANDaa 746–844UCSCHAND

SLIDEaa 901–1015UCSCSLIDE

Gene Aliases

HGNC Name

SNF2 related chromatin remodeling ATPase 1

HGNC Previous Symbols

SNF2L1; SNF2L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282874.2

p.L456V

c.1366C>G

Surrounding Variants

1 paper

NM_001282874.2

p.L453V

c.1357C>G

1 paper

NM_001282874.2

p.N461fs

c.1381_1382fs

1 paper

NM_001282874.2

p.R448L

c.1343G>T

1 paper

NM_001282874.2

p.R448*

c.1342C>T

1 paper

NM_001282874.2

p.D467N

c.1399G>A

3 papers

NM_001282874.2

p.M432T

c.1295T>C

1 paper

NM_001282874.2

p.Y427delFs

c.1279delA

1 paper

NM_001282874.2

p.W426*

c.1278G>A

1 paper

NM_001282874.2

p.W426*

c.1277G>A

1 paper

NM_001282874.2

p.G486G

c.1458T>C

1 paper

NM_001282874.2

p.K493K

c.1479A>G

1 paper

NM_001282874.2

p.G502G

c.1506T>C