Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1
Variant:p.P48_S49del1

DZIP1

83 papers

Pfam Domains

Dzip-like_Naa 58–178UCSCIguana/Dzip1-like DAZ-interacting protein N-terminal
DZIP1aa 537–611UCSCCilium assembly protein DZIP1 domain

Gene Aliases

HGNC Name

DAZ interacting zinc finger protein 1

HGNC Alias Symbol

KIAA0996

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198968.4
p.P48_S49del1
c.143_145delTGG
Surrounding Variants
1 paper
NM_198968.4
p.P48delFs
c.144delG
1 paper
NM_198968.4
p.A50T
c.148G>A
1 paper
NM_198968.4
p.P48S
c.142C>T
1 paper
NM_198968.4
p.A34_A44delFs
c.102_132del31
1 paper
NM_198968.4
p.A37A
c.111C>G
4 papers
NM_198968.4
p.R63Q
c.188G>A
1 paper
NM_198968.4
p.A35fs
c.103_104fs
1 paper
NM_198968.4
p.A34V
c.101C>T
1 paper
NM_198968.4
p.L64L
c.192G>A
1 paper
NM_198968.4
p.E65K
c.193G>A
1 paper
NM_198968.4
p.A32S
c.94G>T
5 papers
NM_198968.4
p.S24R
c.72C>G
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