Varaico: Literature-Extracted Genetic Variants

Gene:GMCL1
Variant:p.N245Y

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
1 paper
NM_178439.5
p.N245Y
c.733A>T
Surrounding Variants
1 paper
NM_178439.5
p.Q192*
c.574C>T
1 paper
NM_178439.5
p.L185F
c.555G>C
1 paper
NM_178439.5
p.L185F
c.555G>T
1 paper
NM_178439.5
p.S264C
c.791C>G
1 paper
NM_178439.5
p.T277I
c.830C>T
1 paper
NM_178439.5
p.K281Q
c.841A>C
1 paper
NM_178439.5
p.I147V
c.439A>G
2 papers
NM_178439.5
p.E142K
c.424G>A
1 paper
NM_178439.5
p.L285I
c.853C>A
1 paper
NM_178439.5
p.K123R
c.368A>G
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