Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6
Variant:p.K137R

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.K137R
c.410A>G
Surrounding Variants
1 paper
NM_013232.4
p.R140W
c.418A>T
1 paper
NM_013232.4
p.R143W
c.427C>T
2 papers
NM_013232.4
p.F148S
c.443T>C
1 paper
NM_013232.4
p.D149N
c.445G>A
1 paper
NM_013232.4
p.G123Splc
c.367+2221A>C
1 paper
NM_013232.4
p.Q159_R160Splc
c.478-2A>G
1 paper
NM_013232.4
p.T162M
c.485C>T
1 paper
NM_013232.4
p.S179L
c.536C>T
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.F122S
c.365T>C
1 paper
NM_013232.4
p.S120S
c.360A>C
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