Varaico: Literature-Extracted Genetic Variants

Gene:CIAO1
Variant:p.H251L

CIAO1

45 papers

Pfam Domains

WD40aa 5–44UCSCWD domain, G-beta repeat
WD40aa 50–89UCSCWD domain, G-beta repeat
WD40aa 95–133UCSCWD domain, G-beta repeat
WD40aa 140–178UCSCWD domain, G-beta repeat
WD40aa 184–222UCSCWD domain, G-beta repeat
WD40aa 241–280UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cytosolic iron-sulfur assembly component 1

HGNC Previous Symbol

WDR39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004804.3
p.H251L
c.752A>T
Surrounding Variants
1 paper
NM_004804.3
p.I255T
c.764T>C
1 paper
NM_004804.3
p.G236S
c.706G>A
1 paper
NM_004804.3
p.G231E
c.692G>A
1 paper
NM_004804.3
p.R216H
c.647G>A
1 paper
NM_004804.3
p.D215Y
c.643G>T
2 papers
NM_004804.3
p.R208H
c.623G>A
2 papers
NM_004804.3
p.H193Y
c.577C>T
2 papers
NM_004804.3
p.W184C
c.552G>C
2 papers
NM_004804.3
p.W184C
c.552G>T
2 papers
NM_004804.3
p.D171G
c.512A>G
1 paper
NM_004804.3
p.E163_L164Splc
c.490-148G>T
1 paper
NM_004804.3
p.K154E
c.460A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."