Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6
Variant:p.P8_G11del0

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.P8_G11del0
c.22_33del12
Surrounding Variants
2 papers
NM_013232.4
p.P8_A12del0
c.23_34del12
1 paper
NM_013232.4
p.Y4F
c.11A>T
1 paper
NM_013232.4
p.A12T
c.34G>A
1 paper
NM_013232.4
p.A12P
c.34G>C
1 paper
NM_013232.4
p.A2V
c.5C>T
1 paper
NM_013232.4
p.G13D
c.38G>A
1 paper
NM_013232.4
p.P14_G15delFs
c.40_44del5
1 paper
NM_013232.4
p.L22_Q33del12
c.64_98del36
1 paper
NM_013232.4
p.S40_S44del5
c.118_131del15
1 paper
NM_013232.4
p.E47Q
c.139G>C
4 papers
NM_013232.4
p.E47A
c.140A>C
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