Varaico: Literature-Extracted Genetic Variants

Gene:PEF1
Variant:p.Q192R

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
1 paper
NM_012392.4
p.Q192R
c.575A>G
Surrounding Variants
1 paper
NM_012392.4
p.Q192Q
c.576G>A
1 paper
NM_012392.4
p.D194N
c.580G>A
1 paper
NM_012392.4
p.D196V
c.587A>T
1 paper
NM_012392.4
p.R197C
c.589C>T
1 paper
NM_012392.4
p.K187*
c.559A>T
1 paper
NM_012392.4
p.Q185H
c.555G>T
1 paper
NM_012392.4
p.Q185H
c.555G>C
1 paper
NM_012392.4
p.I201V
c.601A>G
1 paper
NM_012392.4
p.L206R
c.617T>G
1 paper
NM_012392.4
p.A178T
c.532G>A
1 paper
NM_012392.4
p.S177L
c.530C>T
1 paper
NM_012392.4
p.R170H
c.509G>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."