Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB11
Variant:p.R93W

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.R93W
c.277C>T
Surrounding Variants
1 paper
NM_145231.4
p.R91*
c.271C>T
1 paper
NM_145231.4
p.G109*
c.325G>T
1 paper
NM_145231.4
p.D115N
c.343G>A
1 paper
NM_145231.4
p.V123M
c.367G>A
1 paper
NM_145231.4
p.P128L
c.383C>T
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