Varaico: Literature-Extracted Genetic Variants

Gene:CCDC120
Variant:p.K35N

CCDC120

37 papers

RefSeq Summary

This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 201...

Pfam Domains

CUPIDaa 2–141UCSCCytohesin Ubiquitin Protein Inducing Domain

Gene Aliases

HGNC Name

coiled-coil domain containing 120

HGNC Alias Symbol

JM11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001163321.4
p.K35N
c.105G>C
Surrounding Variants
1 paper
NM_001163321.4
p.K35N
c.105G>T
1 paper
NM_001163321.4
p.E37G
c.110A>G
1 paper
NM_001163321.4
p.L42L
c.124C>T
1 paper
NM_001163321.4
p.R29P
c.86G>C
1 paper
NM_001163321.4
p.G56R
c.166G>A
1 paper
NM_001163321.4
p.G56R
c.166G>C
1 paper
NM_001163321.4
p.A59D
c.176C>A
1 paper
NM_001163321.4
p.Q61R
c.182A>G
1 paper
NM_001163321.4
p.M1K
c.2T>A
1 paper
NM_001163321.4
p.G69E
c.206G>A
1 paper
NM_001163321.4
p.R73Q
c.218G>A
1 paper
NM_001163321.4
p.T76N
c.227C>A
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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."