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.R306*

c.916C>T

Surrounding Variants

1 paper

NM_001282874.2

p.V293_W305delFs

c.878_914del37

1 paper

NM_001282874.2

p.W305S

c.914G>C

1 paper

NM_001282874.2

p.V309I

c.925G>A

1 paper

NM_001282874.2

p.V309fs

c.925_926fs

1 paper

NM_001282874.2

p.V309delFs

c.925delC

1 paper

NM_001282874.2

p.K302M

c.905A>T

1 paper

NM_001282874.2

p.A313G

c.938C>G

1 paper

NM_001282874.2

p.R315K

c.944G>A

1 paper

NM_001282874.2

p.Y290*

c.870T>G

1 paper

NM_001282874.2

p.Y290*

c.870T>A

1 paper

NM_001282874.2

p.C286C

c.858C>T

1 paper

NM_001282874.2

p.M279I

c.837G>T