Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.D350Splc

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.D350Splc
c.1048+53A>C
Surrounding Variants
1 paper
NM_138392.4
p.D350Splc
c.1049-1G>C
1 paper
NM_138392.4
p.G344D
c.1031G>A
1 paper
NM_138392.4
p.R357C
c.1069C>T
1 paper
NM_138392.4
p.R357H
c.1070G>A
1 paper
NM_138392.4
p.M358delFs
c.1074delG
2 papers
NM_138392.4
p.D360A
c.1079A>C
2 papers
NM_138392.4
p.D362A
c.1085A>C
1 paper
NM_138392.4
p.D362G
c.1085A>G
1 paper
NM_138392.4
p.S329I
c.986G>T
1 paper
NM_138392.4
p.G310R
c.928G>A
1 paper
NM_138392.4
p.G310R
c.928G>C
1 paper
NM_138392.4
p.R308C
c.922C>T
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