Varaico: Literature-Extracted Genetic Variants

Gene:GMCL2
Variant:p.V275A

GMCL2

65 papers

RefSeq Summary

This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could p...

Pfam Domains

BTBaa 98–208UCSCBTB/POZ domain

Gene Aliases

HGNC Name

germ cell-less 2, spermatogenesis associated

HGNC Previous Symbols

GMCL1L; GMCL1P1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001358008.2
p.V275A
c.824T>C
Surrounding Variants
2 papers
NM_001358008.2
p.K247delFs
c.741delT
1 paper
NM_001358008.2
p.A165T
c.493G>A
1 paper
NM_001358008.2
p.L390L
c.1168C>T
1 paper
NM_001358008.2
p.D158A
c.473A>C
1 paper
NM_001358008.2
p.A114V
c.341C>T
1 paper
NM_001358008.2
p.R91W
c.271A>T
1 paper
NM_001358008.2
p.V468L
c.1402G>T
1 paper
NM_001358008.2
p.V468L
c.1402G>C
1 paper
NM_001358008.2
p.E69K
c.205G>A
1 paper
NM_001358008.2
p.H50Y
c.148C>T
1 paper
NM_001358008.2
p.L507fs
c.1519_1520fs
3 papers
NM_001358008.2
p.F43F
c.129C>T
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