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

2 papers

NM_198935.3

p.Q122H

c.366G>C

Surrounding Variants

2 papers

NM_198935.3

p.Q122E

c.364C>G

7 papers

NM_198935.3

p.I123M

c.369T>G

1 paper

NM_198935.3

p.S116C

c.347C>G

1 paper

NM_198935.3

p.G112V

c.335G>T

1 paper

NM_198935.3

p.L105Q

c.314T>A

1 paper

NM_198935.3

p.S104C

c.310A>T

1 paper

NM_198935.3

p.G103G

c.309C>A

1 paper

NM_198935.3

p.G103V

c.308G>T

1 paper

NM_198935.3

p.L99R

c.296T>G

1 paper

NM_198935.3

p.S96I

c.287G>T

1 paper

NM_198935.3

p.G94G

c.282C>T

1 paper

NM_198935.3

p.L90L

c.270G>T