Varaico: Literature-Extracted Genetic Variants

Gene:BZW2
Variant:p.N95S

BZW2

26 papers

Pfam Domains

HEAT_5MP1_2aa 1–62UCSC5MP1/2 HEAT domain
HEAT_5MP1_2aa 14–256UCSC5MP1/2 HEAT domain
W2aa 338–415UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

basic leucine zipper and W2 domains 2

HGNC Alias Symbols

HSPC028; MST017; MSTP017; 5MP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014038.3
p.N95S
c.284A>G
Surrounding Variants
1 paper
NM_014038.3
p.R109Q
c.326G>A
2 papers
NM_014038.3
p.L137P
c.410T>C
1 paper
NM_014038.3
p.E145K
c.433G>A
1 paper
NM_014038.3
p.G156E
c.467G>A
1 paper
NM_014038.3
p.T163_T170delFs
c.489_510del22
1 paper
NM_014038.3
p.T67S
c.199A>T
1 paper
NM_014038.3
p.A65E
c.194C>A
1 paper
NM_014038.3
p.R62C
c.184C>T
1 paper
NM_014038.3
p.R31S
c.93G>C
1 paper
NM_014038.3
p.R31S
c.93G>T
1 paper
NM_014038.3
p.M195I
c.585G>A
1 paper
NM_014038.3
p.M195I
c.585G>C
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