Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.V514L

SHKBP1

59 papers

Pfam Domains

BTB_2aa 21–110UCSCBTB/POZ domain

Gene Aliases

HGNC Name

SH3KBP1 binding protein 1

HGNC Alias Symbols

PP203; Sb1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138392.4
p.V514L
c.1540G>T
Surrounding Variants
1 paper
NM_138392.4
p.V514L
c.1540G>C
1 paper
NM_138392.4
p.F521L
c.1561T>C
1 paper
NM_138392.4
p.F521L
c.1563C>A
1 paper
NM_138392.4
p.F521L
c.1563C>G
1 paper
NM_138392.4
p.S492N
c.1475G>A
1 paper
NM_138392.4
p.S457C
c.1370C>G
1 paper
NM_138392.4
p.R454Q
c.1361G>A
1 paper
NM_138392.4
p.D538delFs
c.1612delG
1 paper
NM_138392.4
p.D538fs
c.1612_1613fs
1 paper
NM_138392.4
p.S553C
c.1658C>G
1 paper
NM_138392.4
p.L556L
c.1668C>T
1 paper
NM_138392.4
p.G618D
c.1853G>A
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