Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6
Variant:p.T93M

PDCD6

51 papers

RefSeq Summary

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to othe...

Pfam Domains

EF-hand_7aa 22–86UCSCEF-hand domain pair
EF-hand_7aa 26–88UCSCEF-hand domain pair
EF-hand_5aa 91–109UCSCEF hand

Gene Aliases

HGNC Name

programmed cell death 6

HGNC Alias Symbols

ALG-2; PEF1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013232.4
p.T93M
c.278C>T
Surrounding Variants
1 paper
NM_013232.4
p.T93P
c.277A>C
1 paper
NM_013232.4
p.G87D
c.260G>A
1 paper
NM_013232.4
p.T86M
c.257C>T
1 paper
NM_013232.4
p.N106S
c.317A>G
1 paper
NM_013232.4
p.G79S
c.235G>A
1 paper
NM_013232.4
p.R74H
c.221G>A
5 papers
NM_013232.4
p.E114A
c.341A>C
1 paper
NM_013232.4
p.S120S
c.360A>C
1 paper
NM_013232.4
p.F122S
c.365T>C
1 paper
NM_013232.4
p.G123S
c.367G>A
2 papers
NM_013232.4
p.G123C
c.367G>T
1 paper
NM_013232.4
p.G123Splc
c.367+2221A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."