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

1–12 of 145 variants

7 papers

NM_198935.3

p.I123M

c.369T>G

7 papers

NM_198935.3

p.Q388*

c.1162C>T

2 papers

NM_198935.3

p.T48M

c.143C>T

2 papers

NM_198935.3

p.Q51P

c.152A>C

2 papers

NM_198935.3

p.Q51H

c.153G>C

2 papers

NM_198935.3

p.L61P

c.182T>C

2 papers

NM_198935.3

p.P87S

c.259C>T

2 papers

NM_198935.3

p.G88G

c.264A>T

2 papers

NM_198935.3

p.Q122E

c.364C>G

2 papers

NM_198935.3

p.Q122H

c.366G>C

2 papers

NM_198935.3

p.G151S

c.451G>A

2 papers

NM_198935.3

p.G220_G223del0

c.660_668del9