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.D26Y

c.76G>T

Surrounding Variants

1 paper

NM_001282874.2

p.E25Q

c.73G>C

1 paper

NM_001282874.2

p.E27K

c.79G>A

1 paper

NM_001282874.2

p.E27E

c.81G>A

1 paper

NM_001282874.2

p.Q28H

c.84G>T

1 paper

NM_001282874.2

p.Q28H

c.84G>C

1 paper

NM_001282874.2

p.P31L

c.92C>T

1 paper

NM_001282874.2

p.S34F

c.101C>T

1 paper

NM_001282874.2

p.Q35*

c.103C>T

1 paper

NM_001282874.2

p.T33_S34del2

c.97_101del6

1 paper

NM_001282874.2

p.A15A

c.45G>A

1 paper

NM_001282874.2

p.Q35_E36del2

c.103_107del6

1 paper

NM_001282874.2

p.G38V

c.113G>T