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

3 papers

NM_001282874.2

p.Q3*

c.7C>T

Surrounding Variants

1 paper

NM_001282874.2

p.Q3E

c.7C>G

1 paper

NM_001282874.2

p.Q3insFs

c.7dupC

1 paper

NM_001282874.2

p.E2*

c.4G>T

1 paper

NM_001282874.2

p.M1K

c.2T>A

1 paper

NM_001282874.2

p.A6V

c.17C>T

1 paper

NM_001282874.2

p.A7A

c.21A>T

1 paper

NM_001282874.2

p.A10P

c.28G>C

1 paper

NM_001282874.2

p.T11T

c.33C>T

1 paper

NM_001282874.2

p.V12M

c.34G>A

1 paper

NM_001282874.2

p.V12fs

c.34_35fs

1 paper

NM_001282874.2

p.T11_V12delFs

c.33_34delCG

1 paper

NM_001282874.2

p.V12delFs

c.35_36delCA