Varaico: Literature-Extracted Genetic Variants

Gene:PEF1
Variant:p.K137R

PEF1

25 papers

RefSeq Summary

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and ma...

Pfam Domains

EF-hand_7aa 117–181UCSCEF-hand domain pair
EF-hand_6aa 185–214UCSCEF-hand domain

Gene Aliases

HGNC Name

penta-EF-hand domain containing 1

HGNC Alias Symbol

PEF1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012392.4
p.K137R
c.410A>G
Surrounding Variants
1 paper
NM_012392.4
p.E138D
c.414G>T
1 paper
NM_012392.4
p.E138D
c.414G>C
1 paper
NM_012392.4
p.D127_G132delFs
c.380_395del16
1 paper
NM_012392.4
p.D127N
c.379G>A
1 paper
NM_012392.4
p.D127fs
c.379_380fs
1 paper
NM_012392.4
p.P117S
c.349C>T
1 paper
NM_012392.4
p.D116N
c.346G>A
1 paper
NM_012392.4
p.G110G
c.330C>A
1 paper
NM_012392.4
p.G110C
c.328G>T
1 paper
NM_012392.4
p.G110R
c.328G>C
1 paper
NM_012392.4
p.N161T
c.482A>C
2 papers
NM_012392.4
p.K165R
c.494A>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."