Varaico: Literature-Extracted Genetic Variants

Gene:BSPRY
Variant:p.Q293H

BSPRY

29 papers

Pfam Domains

PRYaa 232–281UCSCSPRY-associated domain
PRYaa 232–281UCSCSPRY-associated domain
SPRYaa 285–401UCSCSPRY domain

Gene Aliases

HGNC Name

B-box and SPRY domain containing

HGNC Alias Symbol

FLJ20150

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017688.3
p.Q293H
c.879G>T
Surrounding Variants
2 papers
NM_017688.3
p.Q293H
c.879G>C
1 paper
NM_017688.3
p.G265delFs
c.795delC
1 paper
NM_017688.3
p.G265fs
c.793_794fs
1 paper
NM_017688.3
p.R335C
c.1003C>T
1 paper
NM_017688.3
p.R249*
c.745C>T
1 paper
NM_017688.3
p.L354L
c.1062G>A
1 paper
NM_017688.3
p.D359Y
c.1075G>T
1 paper
NM_017688.3
p.G373S
c.1117G>A
3 papers
NM_017688.3
p.T374I
c.1121C>T
1 paper
NM_017688.3
p.A378T
c.1132G>A
1 paper
NM_017688.3
p.R402H
c.1205G>A
1 paper
NM_017688.3
p.A221A
c.663G>A
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