Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1614
Variant:p.R377H

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
Selected Variant
4 papers
NM_020950.2
p.R377H
c.1130G>A
Surrounding Variants
1 paper
NM_020950.2
p.E369D
c.1107G>C
1 paper
NM_020950.2
p.E369D
c.1107G>T
1 paper
NM_020950.2
p.R388H
c.1163G>A
1 paper
NM_020950.2
p.P366T
c.1096C>A
1 paper
NM_020950.2
p.R402Q
c.1205G>A
1 paper
NM_020950.2
p.R354Splc
c.1062-8C>T
1 paper
NM_020950.2
p.R410W
c.1228C>T
1 paper
NM_020950.2
p.L422F
c.1264C>T
1 paper
NM_020950.2
p.T427M
c.1280C>T
1 paper
NM_020950.2
p.S435Y
c.1304C>A
2 papers
NM_020950.2
p.P441L
c.1322C>T
1 paper
NM_020950.2
p.R443Q
c.1328G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."