Varaico: Literature-Extracted Genetic Variants

Gene:S100A10
Variant:p.E44E

S100A10

498 papers

RefSeq Summary

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of ...

Pfam Domains

S_100aa 5–46UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A10

HGNC Previous Symbols

ANX2LG; CAL1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002966.3
p.E44E
c.132A>G
Surrounding Variants
1 paper
NM_002966.3
p.E44_N45Splc
c.132+1G>T
1 paper
NM_002966.3
p.M35_E44del10
c.103_131del30
1 paper
NM_002966.3
p.E44_N45Splc
c.132+2T>G
1 paper
NM_002966.3
p.E44_N45Splc
c.132+2T>A
1 paper
NM_002966.3
p.E44*
c.130G>T
1 paper
NM_002966.3
p.E44K
c.130G>A
1 paper
NM_002966.3
p.L43L
c.127T>C
1 paper
NM_002966.3
p.F39_G41del3
c.115_122del9
1 paper
NM_002966.3
p.F42I
c.124T>A
3 papers
NM_002966.3
p.G41R
c.121G>C
3 papers
NM_002966.3
p.G41R
c.121G>A
1 paper
NM_002966.3
p.E38_P40delFs
c.112_119del8
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