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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:S100A2

S100A2

14 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 6–50UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A2

HGNC Previous Symbol

S100L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr1:153561554 C>T

NM_005978.4

p.G61D

c.182G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)233 overlapping SVs

2 papers

chr1:153561551 C>T

NM_005978.4

p.S62N

c.185G>A

Exome: 5.7% (AC=83562, hom=4900)Genome: 15.1% (AC=22926, hom=3720)233 overlapping SVs

1 paper

chr1:153563835 T>C

NM_005978.4

p.T15A

c.43A>G

S_100

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:153563811 G>A

NM_005978.4

p.Q23*

c.67C>T

S_100

Exome: 0.0% (AC=143, hom=0)Genome: 0.0% (AC=49, hom=0)235 overlapping SVs

1 paper

chr1:153563736 C>T

NM_005978.4

p.G48R

c.142G>A

S_100

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:153563625 G>C

NM_005978.4

p.G48_E49Splc

c.144+109C>G

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)235 overlapping SVs

1 paper

chr1:153561509 T>A

NM_005978.4

p.Y76F

c.227A>T

exact variant not in gnomAD233 overlapping SVs

1 paper

chr1:153561506 G>C

NM_005978.4

p.A77G

c.230C>G

exact variant not in gnomAD233 overlapping SVs

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