Varaico: Literature-Extracted Genetic Variants

Gene:S100A14

S100A14

35 papers

RefSeq Summary

This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein h...

Pfam Domains

S_100aa 18–61UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A14

HGNC Alias Symbols

S100A15; BCMP84

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
3 papers
NM_020672.3
p.H30_Q31del1
c.90_92delTGG
2 papers
NM_020672.3
p.H30_Q31del2
c.88_92del6
2 papers
NM_020672.3
p.E90_A92del3
c.268_275del9
1 paper
NM_020672.3
p.C4del1
c.10_11delACA
1 paper
NM_020672.3
p.E14A
c.41A>C
1 paper
NM_020672.3
p.S16fs
c.46_47fs
1 paper
NM_020672.3
p.S33A
c.97T>G
1 paper
NM_020672.3
p.S33C
c.98C>G
1 paper
NM_020672.3
p.G37A
c.110G>C
1 paper
NM_020672.3
p.R47W
c.139C>T
1 paper
NM_020672.3
p.L49M
c.145C>A
1 paper
NM_020672.3
p.V50G
c.149T>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."