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

1–12 of 270 variants

5 papers

NM_001282874.2

p.R259G

c.775C>G

4 papers

NM_001282874.2

p.R229*

c.685C>T

4 papers

NM_001282874.2

p.R253*

c.757C>T

4 papers

NM_001282874.2

p.M279I

c.837G>A

4 papers

NM_001282874.2

p.R306*

c.916C>T

4 papers

NM_001282874.2

p.L357*

c.1070T>G

4 papers

NM_001282874.2

p.L357*

c.1070T>A

4 papers

NM_001282874.2

p.V505A

c.1514T>C

4 papers

NM_001282874.2

p.P537L

c.1610C>T

3 papers

NM_001282874.2

p.Q3*

c.7C>T

3 papers

NM_001282874.2

p.R91*

c.271C>T

3 papers

NM_001282874.2

p.Q136R

c.407A>G