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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPMIP4

Variant:p.R45Splc

SPMIP4

7p15.3 (UCSC)OMIM GTEx

37 papers

Pfam Domains

SPMIP4-likeaa 1–283UCSCSperm-associated microtubule inner protein 4

Gene Aliases

HGNC Name

sperm microtubule inner protein 4

HGNC Previous Symbol

C7orf31

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:25179174 C>T

NM_138811.4

p.R45Splc

c.134+1G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a76 overlapping SVs

Surrounding Variants

chr7:25179221 G>A

NM_138811.4

p.H30Y

c.88C>T

exact variant not in gnomAD76 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."