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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPECC1

Variant:p.D796Y

SPECC1

216 papers

RefSeq Summary

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this...

Pfam Domains

CHaa 962–1068UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

sperm antigen with calponin homology and coiled-coil domains 1

HGNC Previous Symbol

CYTSB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr17:20245960 G>T

NM_001243439.2

p.D796Y

c.2386G>T

exact variant not in gnomAD10 overlapping SVs

Surrounding Variants

1 paper

chr17:20246016 A>C

NM_001243439.2

p.P814P

c.2442A>C

Exome: 0.0% (AC=7, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr17:20246069 C>A

NM_001243439.2

p.P832Q

c.2495C>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr17:20247303 C>A

NM_001243439.2

p.A861D

c.2582C>A

exact variant not in gnomAD10 overlapping SVs

1 paper

chr17:20253547 G>A

NM_001243439.2

p.V881M

c.2641G>A

Exome: 0.1% (AC=1518, hom=2)Genome: 0.1% (AC=100, hom=1)10 overlapping SVs

1 paper

chr17:20253584 C>T

NM_001243439.2

p.S893L

c.2678C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 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."