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.Q222_G223ins1

c.666_667insGGC

Surrounding Variants

1 paper

NM_198935.3

p.G223R

c.667G>A

1 paper

NM_198935.3

p.S224del1

c.670_671delAGC

2 papers

NM_198935.3

p.G220_G223del0

c.660_668del9

1 paper

NM_198935.3

p.R230Q

c.689G>A

1 paper

NM_198935.3

p.M232_A233insTT

c.694_698ins6

1 paper

NM_198935.3

p.S212L

c.635C>T

1 paper

NM_198935.3

p.A233A

c.699G>A

1 paper

NM_198935.3

p.Y208N

c.622T>A

1 paper

NM_198935.3

p.H207Q

c.621C>G

1 paper

NM_198935.3

p.S238F

c.713C>T

1 paper

NM_198935.3

p.G204S

c.610G>A

1 paper

NM_198935.3

p.G203G

c.609C>T