Varaico: Literature-Extracted Genetic Variants

Gene:STRADB
Variant:p.W123insFs

STRADB

35 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus...

Pfam Domains

Pkinaseaa 58–369UCSCProtein kinase domain

Gene Aliases

HGNC Name

STE20 related adaptor beta

HGNC Previous Symbol

ALS2CR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018571.6
p.W123insFs
c.368_369insAT
Surrounding Variants
1 paper
NM_018571.6
p.W123*
c.368G>A
1 paper
NM_018571.6
p.W123*
c.369G>A
1 paper
NM_018571.6
p.S130N
c.389G>A
1 paper
NM_018571.6
p.F114L
c.342C>A
1 paper
NM_018571.6
p.F114L
c.342C>G
1 paper
NM_018571.6
p.F114L
c.340T>C
1 paper
NM_018571.6
p.V108_I109delFs
c.324_325delGA
1 paper
NM_018571.6
p.L175M
c.523C>A
1 paper
NM_018571.6
p.R183K
c.548G>A
1 paper
NM_018571.6
p.L104F
c.312A>C
1 paper
NM_018571.6
p.L104F
c.312A>T
1 paper
NM_018571.6
p.L101V
c.301C>G
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