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.Q51H

c.153G>C

Surrounding Variants

2 papers

NM_198935.3

p.Q51P

c.152A>C

1 paper

NM_198935.3

p.I53_L54insG

c.157_161ins3

1 paper

NM_198935.3

p.I53M

c.159C>G

1 paper

NM_198935.3

p.H55P

c.164A>C

1 paper

NM_198935.3

p.R56W

c.166C>T

1 paper

NM_198935.3

p.N57D

c.169A>G

2 papers

NM_198935.3

p.L61P

c.182T>C

1 paper

NM_198935.3

p.D66N

c.196G>A

1 paper

NM_198935.3

p.Q72L

c.215A>T

1 paper

NM_198935.3

p.L75V

c.223C>G

2 papers

NM_198935.3

p.T48M

c.143C>T

1 paper

NM_198935.3

p.T44T

c.132G>C