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.L36L

c.108G>C

Surrounding Variants

1 paper

NM_198935.3

p.L36P

c.107T>C

1 paper

NM_198935.3

p.E37_Y38insFs

c.111_112ins10

1 paper

NM_198935.3

p.L36M

c.106C>A

1 paper

NM_198935.3

p.E37D

c.111G>C

1 paper

NM_198935.3

p.I35L

c.103A>C

1 paper

NM_198935.3

p.C34*

c.102C>A

1 paper

NM_198935.3

p.S40_K41ins2

c.120_121ins6

1 paper

NM_198935.3

p.Q33E

c.97C>G

1 paper

NM_198935.3

p.I32I

c.96C>T

1 paper

NM_198935.3

p.L31L

c.93G>A

1 paper

NM_198935.3

p.K43E

c.127A>G

1 paper

NM_198935.3

p.H29N

c.85C>A