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.Q388_G389Splc

c.1164+100A>G

Surrounding Variants

7 papers

NM_198935.3

p.Q388*

c.1162C>T

1 paper

NM_198935.3

p.Y386N

c.1156T>A

1 paper

NM_198935.3

p.R382W

c.1144C>T

1 paper

NM_198935.3

p.Q380R

c.1139A>G

1 paper

NM_198935.3

p.R370Q

c.1109G>A

1 paper

NM_198935.3

p.Y369*

c.1107C>A

1 paper

NM_198935.3

p.Y369*

c.1107C>G

1 paper

NM_198935.3

p.G361D

c.1082G>A

1 paper

NM_198935.3

p.P356S

c.1066C>T

1 paper

NM_198935.3

p.Y345ins0

c.1033_1035dupTAC

1 paper

NM_198935.3

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_198935.3

p.Q335fs

c.1003_1004fs