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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC122

Variant:p.I269T

CCDC122

22 papers

RefSeq Summary

This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017].

Pfam Domains

CCDC122aa 52–262UCSCCoiled-coil domain-containing protein 122

Gene Aliases

HGNC Name

coiled-coil domain containing 122

HGNC Alias Symbol

FLJ31846

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr13:43837296 A>G

NM_144974.5

p.I269T

c.806T>C

Exome: 4.5% (AC=65906, hom=1867)Genome: 4.1% (AC=6289, hom=190)11 overlapping SVs

Surrounding Variants

1 paper

chr13:43837285 C>T

NM_144974.5

p.E273K

c.817G>A

Exome: 5.1% (AC=74328, hom=2202)Genome: 3.9% (AC=5877, hom=162)11 overlapping SVs

1 paper

chr13:43837312 C>G

NM_144974.5

p.E264Q

c.790G>C

exact variant not in gnomAD11 overlapping SVs

1 paper

chr13:43837336 G>A

NM_144974.5

p.Q256*

c.766C>T

CCDC122

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr13:43837356 C>A

NM_144974.5

p.R249L

c.746G>T

CCDC122

exact variant not in gnomAD11 overlapping SVs

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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."