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.I109I

c.327T>C

Surrounding Variants

1 paper

NM_001282874.2

p.Q114R

c.341A>G

1 paper

NM_001282874.2

p.K115T

c.344A>C

2 papers

NM_001282874.2

p.T118I

c.353C>T

1 paper

NM_001282874.2

p.Q101K

c.301C>A

1 paper

NM_001282874.2

p.T118T

c.354A>G

1 paper

NM_001282874.2

p.L98L

c.292T>C

1 paper

NM_001282874.2

p.A92P

c.274G>C

1 paper

NM_001282874.2

p.P128S

c.382C>T

3 papers

NM_001282874.2

p.R91*

c.271C>T

1 paper

NM_001282874.2

p.P128P

c.384C>G

1 paper

NM_001282874.2

p.D90N

c.268G>A

1 paper

NM_001282874.2

p.K88R

c.263A>G