Varaico: Literature-Extracted Genetic Variants

Gene:BZW2
Variant:p.Q225H

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.Q225H
c.675G>T
Surrounding Variants
1 paper
NM_014038.3
p.Q225H
c.675G>C
1 paper
NM_014038.3
p.A237V
c.710C>T
1 paper
NM_014038.3
p.L239V
c.715C>G
1 paper
NM_014038.3
p.E241G
c.722A>G
1 paper
NM_014038.3
p.L246F
c.736C>T
1 paper
NM_014038.3
p.Q259*
c.775C>T
1 paper
NM_014038.3
p.T204N
c.611C>A
1 paper
NM_014038.3
p.V203I
c.607G>A
1 paper
NM_014038.3
p.M195I
c.585G>A
1 paper
NM_014038.3
p.M195I
c.585G>C
1 paper
NM_014038.3
p.M195I
c.585G>T
1 paper
NM_014038.3
p.T163_T170delFs
c.489_510del22
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