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.S175delFs

c.525delT

Surrounding Variants

1 paper

NM_198935.3

p.V174A

c.521T>C

1 paper

NM_198935.3

p.T177T

c.531C>A

1 paper

NM_198935.3

p.N180S

c.539A>G

1 paper

NM_198935.3

p.N180K

c.540C>A

1 paper

NM_198935.3

p.N180K

c.540C>G

1 paper

NM_198935.3

p.T169N

c.506C>A

1 paper

NM_198935.3

p.G168V

c.503G>T

1 paper

NM_198935.3

p.Q165*

c.493C>T

1 paper

NM_198935.3

p.P163T

c.487C>A

1 paper

NM_198935.3

p.G161S

c.481G>A

1 paper

NM_198935.3

p.A158T

c.472G>A

1 paper

NM_198935.3

p.P157H

c.470C>A