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

4 papers

NM_001282874.2

p.P537L

c.1610C>T

Surrounding Variants

1 paper

NM_001282874.2

p.H538_E539insA

c.1612_1616ins3

1 paper

NM_001282874.2

p.D533N

c.1597G>A

1 paper

NM_001282874.2

p.E542_D543Splc

c.1626+2T>G

1 paper

NM_001282874.2

p.D520A

c.1559A>C

1 paper

NM_001282874.2

p.R513C

c.1537C>T

4 papers

NM_001282874.2

p.V505A

c.1514T>C

1 paper

NM_001282874.2

p.G502G

c.1506T>C

1 paper

NM_001282874.2

p.K493K

c.1479A>G

1 paper

NM_001282874.2

p.G486G

c.1458T>C

1 paper

NM_001282874.2

p.D467N

c.1399G>A

1 paper

NM_001282874.2

p.N461fs

c.1381_1382fs

1 paper

NM_001282874.2

p.L456V

c.1366C>G