Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB11
Variant:p.S4_E5del1

EFCAB11

14 papers

Pfam Domains

EF-hand_8aa 21–50UCSCEF-hand domain pair
EF-hand_8aa 21–50UCSCEF-hand domain pair
EF-hand_7aa 93–156UCSCEF-hand domain pair

Gene Aliases

HGNC Name

EF-hand calcium binding domain 11

HGNC Previous Symbol

C14orf143

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145231.4
p.S4_E5del1
c.12_14delTCG
Surrounding Variants
1 paper
NM_145231.4
p.T12_E14del0
c.35_40del6
1 paper
NM_145231.4
p.T12_E14del3
c.34_41del9
1 paper
NM_145231.4
p.A15V
c.44C>T
1 paper
NM_145231.4
p.S18L
c.53C>T
1 paper
NM_145231.4
p.D31G
c.92A>G
1 paper
NM_145231.4
p.K35_R40del6
c.103_119del18
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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."