Varaico: Literature-Extracted Genetic Variants

Gene:CCDC175
Variant:p.Q502H

CCDC175

39 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 175

HGNC Previous Symbol

C14orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164399.2
p.Q502H
c.1506A>C
Surrounding Variants
1 paper
NM_001164399.2
p.Q502H
c.1506A>T
1 paper
NM_001164399.2
p.G507E
c.1520G>A
1 paper
NM_001164399.2
p.E497K
c.1489G>A
1 paper
NM_001164399.2
p.N496K
c.1488C>G
1 paper
NM_001164399.2
p.N496K
c.1488C>A
1 paper
NM_001164399.2
p.I484fs
c.1450_1451fs
1 paper
NM_001164399.2
p.Q424R
c.1271A>G
1 paper
NM_001164399.2
p.Q401fs
c.1201_1202fs
1 paper
NM_001164399.2
p.Q401delFs
c.1202delT
1 paper
NM_001164399.2
p.E391K
c.1171G>A
1 paper
NM_001164399.2
p.V545F
c.1633G>T
1 paper
NM_001164399.2
p.T548_Q549insFs
c.1644_1645insA
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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."