Varaico: Literature-Extracted Genetic Variants

SMARCA4

1,762 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are th...

Pfam Domains

QLQaa 171–205UCSCQLQ

HSAaa 461–531UCSCHSA domain

BRKaa 611–654UCSCBRK domain

SNF2-rel_domaa 757–1051UCSCSNF2-related domain

Helicase_Caa 1080–1194UCSCHelicase conserved C-terminal domain

SnACaa 1322–1389UCSCSnf2-ATP coupling, chromatin remodelling complex

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

HGNC Previous Symbol

SNF2L4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

39 papers

NM_003072.5

p.R1243W

c.3727C>T

Surrounding Variants

1 paper

NM_003072.5

p.R1243fs

c.3727_3728fs

1 paper

NM_003072.5

p.R1243G

c.3727C>G

12 papers

NM_003072.5

p.R1243Q

c.3728G>A

7 papers

NM_003072.5

p.R1243L

c.3728G>T

3 papers

NM_003072.5

p.R1243_R1244delFs

c.3729_3730delGC

1 paper

NM_003072.5

p.E1242G

c.3725A>G

4 papers

NM_003072.5

p.R1244C

c.3730C>T

1 paper

NM_003072.5

p.E1242K

c.3724G>A

3 papers

NM_003072.5

p.R1244H

c.3731G>A

2 papers

NM_003072.5

p.R1244P

c.3731G>C

1 paper

NM_003072.5

p.R1244R

c.3732C>T

1 paper

NM_003072.5

p.H1241Y

c.3721C>T