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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMCP

SMCP

13 papers

RefSeq Summary

Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the m...

Pfam Domains

SMCPaa 1–113UCSCSperm mitochondrial-associated cysteine-rich protein

Gene Aliases

HGNC Name

sperm mitochondria associated cysteine rich protein

HGNC Previous Symbol

MCSP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr1:152884432 C>A

NM_030663.3

p.Q4K

c.10C>A

SMCP

exact variant not in gnomAD236 overlapping SVs

1 paper

chr1:152884494 C>A

NM_030663.3

p.N24K

c.72C>A

SMCP

Exome: 0.0% (AC=1, hom=0)Genome: n/a236 overlapping SVs

1 paper

chr1:152884494 C>G

NM_030663.3

p.N24K

c.72C>G

SMCP

exact variant not in gnomAD236 overlapping SVs

1 paper

chr1:152884504 C>T

NM_030663.3

p.Q28*

c.82C>T

SMCP

Exome: 0.0% (AC=1, hom=0)Genome: n/a236 overlapping SVs

1 paper

chr1:152884519 C>G

NM_030663.3

p.Q33E

c.97C>G

SMCP

Exome: 0.7% (AC=9847, hom=676)Genome: 5.3% (AC=8035, hom=665)236 overlapping SVs

1 paper

chr1:152884550 G>T

NM_030663.3

p.C43F

c.128G>T

SMCP

Exome: 0.0% (AC=1, hom=0)Genome: n/a236 overlapping SVs

1 paper

chr1:152884579 C>T

NM_030663.3

p.P53S

c.157C>T

SMCP

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=6, hom=0)236 overlapping SVs

1 paper

chr1:152884606 A>T

NM_030663.3

p.K62*

c.184A>T

SMCP

exact variant not in gnomAD236 overlapping SVs

1 paper

chr1:152884697 C>T

NM_030663.3

p.P92L

c.275C>T

SMCP

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=3, hom=0)236 overlapping SVs

1 paper

chr1:152884760 G>A

NM_030663.3

p.R113K

c.338G>A

SMCP

exact variant not in gnomAD236 overlapping SVs

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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."