Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:S100Z

Variant:p.R24K

S100Z

18 papers

RefSeq Summary

Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[suppli...

Pfam Domains

S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein Z

HGNC Alias Symbols

Gm625; S100-zeta

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:76875430 G>A

NM_130772.4

p.R24K

c.71G>A

S_100

exact variant not in gnomAD84 overlapping SVs

Surrounding Variants

6 papers

chr5:76875427 A>C

NM_130772.4

p.E23A

c.68A>C

S_100

Exome: 64.8% (AC=945558, hom=311323)Genome: 62.9% (AC=95523, hom=30455)84 overlapping SVs

1 paper

chr5:76875421 G>C

NM_130772.4

p.G21A

c.62G>C

S_100

exact variant not in gnomAD84 overlapping SVs

3 papers

chr5:76875477 C>G

NM_130772.4

p.R40G

c.118C>G

S_100

Exome: 0.0% (AC=547, hom=6)Genome: 0.0% (AC=43, hom=0)84 overlapping SVs

1 paper

chr5:76875380 G>A

NM_130772.4

p.M7I

c.21G>A

S_100

exact variant not in gnomAD84 overlapping SVs

1 paper

chr5:76875488 G>A

NM_130772.4

p.T43T

c.129G>A

S_100

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=1, hom=0)84 overlapping SVs

1 paper

chr5:76877677 C>A

NM_130772.4

p.Q49K

c.145C>A

S_100

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr5:76877737 G>A

NM_130772.4

p.E69K

c.205G>A

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=1, hom=0)83 overlapping SVs

1 paper

chr5:76877757 C>T

NM_130772.4

p.F75F

c.225C>T

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=6, hom=0)83 overlapping SVs

1 paper

chr5:76877813 T>C

NM_130772.4

p.L94S

c.281T>C

Exome: 0.0% (AC=146, hom=0)Genome: 0.0% (AC=5, hom=0)83 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."