Varaico: Literature-Extracted Genetic Variants

Gene:GMCL1
Variant:p.R457H

GMCL1

25 papers

RefSeq Summary

This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus ...

Pfam Domains

BTBaa 98–208UCSCBTB/POZ domain
BACKaa 213–300UCSCBTB And C-terminal Kelch

Gene Aliases

HGNC Name

germ cell-less 1, spermatogenesis associated

HGNC Alias Symbols

FLJ13057; BTBD13; GCL1; SPATA29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_178439.5
p.R457H
c.1370G>A
Surrounding Variants
1 paper
NM_178439.5
p.R449Q
c.1346G>A
1 paper
NM_178439.5
p.R410H
c.1229G>A
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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."