Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1614

KIAA1614

99 papers

Pfam Domains

DUF4685aa 354–478UCSCDomain of unknown function (DUF4685)
PDZaa 1133–1214UCSCPDZ domain

Gene Aliases

Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
8 papers
NM_020950.2
p.L64P
c.191T>C
8 papers
NM_020950.2
p.N1078D
c.3232A>G
4 papers
NM_020950.2
p.P267L
c.800C>T
4 papers
NM_020950.2
p.R377H
c.1130G>A
3 papers
NM_020950.2
p.R740W
c.2218C>T
3 papers
NM_020950.2
p.L801F
c.2403G>C
3 papers
NM_020950.2
p.L801F
c.2403G>T
2 papers
NM_020950.2
p.R275H
c.824G>A
2 papers
NM_020950.2
p.S326F
c.977C>T
2 papers
NM_020950.2
p.P441L
c.1322C>T
2 papers
NM_020950.2
p.D613N
c.1837G>A
2 papers
NM_020950.2
p.Q641H
c.1923A>C
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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."