Varaico: Literature-Extracted Genetic Variants

Gene:CCDC157
Variant:p.Q102H

CCDC157

46 papers

Pfam Domains

CCDC157_Naa 3–83UCSCCoiled-coil domain-containing protein 157 N-terminal domain
CCDC157_Naa 3–164UCSCCoiled-coil domain-containing protein 157 N-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 157

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017437.5
p.Q102H
c.306G>C
Surrounding Variants
1 paper
NM_001017437.5
p.Q102H
c.306G>T
1 paper
NM_001017437.5
p.A110V
c.329C>T
1 paper
NM_001017437.5
p.A110A
c.330G>A
1 paper
NM_001017437.5
p.R122H
c.365G>A
1 paper
NM_001017437.5
p.Q136H
c.408G>C
1 paper
NM_001017437.5
p.Q136H
c.408G>T
1 paper
NM_001017437.5
p.E158K
c.472G>A
1 paper
NM_001017437.5
p.T167I
c.500C>T
1 paper
NM_001017437.5
p.Q182K
c.544C>A
1 paper
NM_001017437.5
p.P191L
c.572C>T
1 paper
NM_001017437.5
p.T201M
c.602C>T
1 paper
NM_001017437.5
p.A223_A225delFs
c.668_675del8
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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."