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.T243S

c.727A>T

Surrounding Variants

1 paper

NM_001282874.2

p.T243I

c.728C>T

1 paper

NM_001282874.2

p.T243S

c.728C>G

1 paper

NM_001282874.2

p.S242P

c.724T>C

1 paper

NM_001282874.2

p.V239G

c.716T>G

1 paper

NM_001282874.2

p.N246N

c.738C>T

1 paper

NM_001282874.2

p.W247*

c.740G>A

4 papers

NM_001282874.2

p.R253*

c.757C>T

1 paper

NM_001282874.2

p.N230K

c.690T>G

4 papers

NM_001282874.2

p.R229*

c.685C>T

5 papers

NM_001282874.2

p.R259G

c.775C>G

1 paper

NM_001282874.2

p.R259P

c.776G>C

1 paper

NM_001282874.2

p.I261S

c.782T>G