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

4 papers

NM_001282874.2

p.L357*

c.1070T>G

Surrounding Variants

4 papers

NM_001282874.2

p.L357*

c.1070T>A

2 papers

NM_001282874.2

p.L357insFs

c.1071dupA

2 papers

NM_001282874.2

p.L358fs

c.1072_1073fs

1 paper

NM_001282874.2

p.L353S

c.1058T>C

1 paper

NM_001282874.2

p.F362F

c.1086T>C

1 paper

NM_001282874.2

p.E349K

c.1045G>A

1 paper

NM_001282874.2

p.L343L

c.1029G>A

1 paper

NM_001282874.2

p.T333T

c.999T>A

1 paper

NM_001282874.2

p.R328del1

c.982_984delACG

1 paper

NM_001282874.2

p.D373D

c.1119C>T

1 paper

NM_001282874.2

p.L383I

c.1147C>A

1 paper

NM_001282874.2

p.L383H

c.1148T>A