Varaico: Literature-Extracted Genetic Variants

Gene:CALCA
Variant:p.N139delFs

CALCA

276 papers

RefSeq Summary

This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor...

Pfam Domains

Calc_CGRP_IAPPaa 1–120UCSCCalcitonin / CGRP / IAPP family

Gene Aliases

HGNC Name

calcitonin related polypeptide alpha

HGNC Previous Symbol

CALC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001741.3
p.N139delFs
c.416_417delAT
Surrounding Variants
1 paper
NM_001741.3
p.P137P
c.411C>A
1 paper
NM_001741.3
p.R131H
c.392G>A
1 paper
NM_001741.3
p.H130R
c.389A>G
1 paper
NM_001741.3
p.D129_H130insC
c.385_389ins3
1 paper
NM_001741.3
p.D129N
c.385G>A
1 paper
NM_001741.3
p.E127A
c.380A>C
1 paper
NM_001741.3
p.D125N
c.373G>A
1 paper
NM_001741.3
p.D121delFs
c.363delA
1 paper
NM_001741.3
p.D121H
c.361G>C
1 paper
NM_001741.3
p.R120W
c.358A>T
1 paper
NM_001741.3
p.K118K
c.354G>A
1 paper
NM_001741.3
p.T109N
c.326C>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."