Varaico: Literature-Extracted Genetic Variants

Gene:CCDC172

CCDC172

27 papers

Pfam Domains

CCDC172aa 1–245UCSCCoiled-coil domain-containing protein 172

Gene Aliases

HGNC Name

coiled-coil domain containing 172

HGNC Previous Symbol

C10orf96

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
2 papers
NM_198515.3
p.I97_K98delFs
c.291_294del4
2 papers
NM_198515.3
p.K98fs
c.292_293fs
1 paper
NM_198515.3
p.M1T
c.2T>C
1 paper
NM_198515.3
p.L3V
c.7T>G
1 paper
NM_198515.3
p.I10V
c.28A>G
1 paper
NM_198515.3
p.A17V
c.50C>T
1 paper
NM_198515.3
p.R21C
c.61C>T
1 paper
NM_198515.3
p.R22H
c.65G>A
1 paper
NM_198515.3
p.R35C
c.103C>T
1 paper
NM_198515.3
p.F60L
c.178T>C
1 paper
NM_198515.3
p.F60L
c.180T>A
1 paper
NM_198515.3
p.F60L
c.180T>G
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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."