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.S328C

c.983C>G

Surrounding Variants

1 paper

NM_198935.3

p.Q331K

c.991C>A

1 paper

NM_198935.3

p.A322V

c.965C>T

1 paper

NM_198935.3

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_198935.3

p.Q335fs

c.1003_1004fs

1 paper

NM_198935.3

p.A321T

c.961G>A

1 paper

NM_198935.3

p.Q319Q

c.957G>A

1 paper

NM_198935.3

p.Y317F

c.950A>T

1 paper

NM_198935.3

p.A315T

c.943G>A

1 paper

NM_198935.3

p.Y345ins0

c.1033_1035dupTAC

1 paper

NM_198935.3

p.Q312K

c.934C>A

1 paper

NM_198935.3

p.Y310Y

c.930C>T

1 paper

NM_198935.3

p.G306Splc

c.917-17T>C