Varaico: Literature-Extracted Genetic Variants

Gene:PEF1

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
1–12 of 53 variants
2 papers
NM_012392.4
p.K137R
c.410A>G
2 papers
NM_012392.4
p.K165R
c.494A>G
2 papers
NM_012392.4
p.K167R
c.500A>G
2 papers
NM_012392.4
p.S211F
c.632C>T
1 paper
NM_012392.4
p.S3C
c.7A>T
1 paper
NM_012392.4
p.S3delFs
c.7delT
1 paper
NM_012392.4
p.S3fs
c.7_8fs
1 paper
NM_012392.4
p.Y4F
c.11A>T
1 paper
NM_012392.4
p.P5L
c.14C>T
1 paper
NM_012392.4
p.A13V
c.38C>T
1 paper
NM_012392.4
p.L40L
c.120A>T
1 paper
NM_012392.4
p.P54S
c.160C>T
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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."