Varaico: Literature-Extracted Genetic Variants

SMARCA2

621 papers

RefSeq Summary

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

Pfam Domains

QLQaa 173–207UCSCQLQ

HSAaa 437–507UCSCHSA domain

BRKaa 589–632UCSCBRK domain

SNF2-rel_domaa 727–1021UCSCSNF2-related domain

SNF2-rel_domaa 866–963UCSCSNF2-related domain

Helicase_Caa 1050–1164UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

HGNC Previous Symbol

SNF2L2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003070.5

p.R855P

c.2564G>C

Surrounding Variants

14 papers

NM_003070.5

p.R855Q

c.2564G>A

2 papers

NM_003070.5

p.R855L

c.2564G>T

7 papers

NM_003070.5

p.R855G

c.2563C>G

1 paper

NM_003070.5

p.M856V

c.2566A>G

1 paper

NM_003070.5

p.H854Q

c.2562C>A

9 papers

NM_003070.5

p.H854R

c.2561A>G

8 papers

NM_003070.5

p.H854L

c.2561A>T

1 paper

NM_003070.5

p.H854N

c.2560C>A

1 paper

NM_003070.5

p.H854D

c.2560C>G

1 paper

NM_003070.5

p.H854Y

c.2560C>T

1 paper

NM_003070.5

p.G853D

c.2558G>A

4 papers

NM_003070.5

p.G853V

c.2558G>T