Varaico: Literature-Extracted Genetic Variants

SS18L1

228 papers

RefSeq Summary

This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. M...

Pfam Domains

SSXTaa 13–74UCSCSSXT protein (N-terminal region)

Gene Aliases

HGNC Name

SS18L1 subunit of BAF chromatin remodeling complex

HGNC Alias Symbols

KIAA0693; CREST; SMARCL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198935.3

p.T142I

c.425C>T

Surrounding Variants

1 paper

NM_198935.3

p.S144Y

c.431C>A

1 paper

NM_198935.3

p.I147I

c.441C>A

1 paper

NM_198935.3

p.S148Y

c.443C>A

1 paper

NM_198935.3

p.A136V

c.407C>T

1 paper

NM_198935.3

p.P150A

c.448C>G

1 paper

NM_198935.3

p.P150P

c.450C>A

1 paper

NM_198935.3

p.Q134insFs

c.401dupA

2 papers

NM_198935.3

p.G151S

c.451G>A

1 paper

NM_198935.3

p.H154Y

c.460C>T

1 paper

NM_198935.3

p.S128G

c.382A>G

1 paper

NM_198935.3

p.P157T

c.469C>A

1 paper

NM_198935.3

p.P157H

c.470C>A