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.K214Q

c.640A>C

Surrounding Variants

1 paper

NM_001282874.2

p.G213A

c.638G>C

1 paper

NM_001282874.2

p.G211G

c.633C>T

1 paper

NM_001282874.2

p.L216F

c.648A>T

1 paper

NM_001282874.2

p.L216F

c.648A>C

1 paper

NM_001282874.2

p.Q217R

c.650A>G

1 paper

NM_001282874.2

p.Q217P

c.650A>C

1 paper

NM_001282874.2

p.T218P

c.652A>C

1 paper

NM_001282874.2

p.I219V

c.655A>G

1 paper

NM_001282874.2

p.I219L

c.655A>C

1 paper

NM_001282874.2

p.A220G

c.659C>G

1 paper

NM_001282874.2

p.G223S

c.667G>A

4 papers

NM_001282874.2

p.R229*

c.685C>T