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.K52N

c.156G>C

Surrounding Variants

1 paper

NM_001282874.2

p.K52E

c.154A>G

1 paper

NM_001282874.2

p.G53G

c.159C>G

1 paper

NM_001282874.2

p.T50M

c.149C>T

1 paper

NM_001282874.2

p.K55R

c.164A>G

1 paper

NM_001282874.2

p.A49A

c.147C>G

1 paper

NM_001282874.2

p.A48A

c.144G>A

1 paper

NM_001282874.2

p.K57del1

c.169_171delCTT

1 paper

NM_001282874.2

p.T44T

c.132C>T

1 paper

NM_001282874.2

p.A43T

c.127G>A

1 paper

NM_001282874.2

p.A42A

c.126G>T

1 paper

NM_001282874.2

p.A40A

c.120C>A

1 paper

NM_001282874.2

p.A39A

c.117G>C