Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMCL1

Variant:p.I340V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:69854906 A>G

NM_178439.5

p.I340V

c.1018A>G

Exome: 0.0% (AC=158, hom=0)Genome: 0.0% (AC=29, hom=0)148 overlapping SVs

Surrounding Variants

1 paper

chr2:69849661 C>A

NM_178439.5

p.L285I

c.853C>A

BACK

Exome: 0.0% (AC=0, hom=0)Genome: n/a148 overlapping SVs

1 paper

chr2:69861349 T>C

NM_178439.5

p.G381Splc

c.1142+2T>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a149 overlapping SVs

1 paper

chr2:69847625 A>C

NM_178439.5

p.K281Q

c.841A>C

BACK

Exome: 0.1% (AC=1176, hom=3)Genome: 0.1% (AC=86, hom=0)148 overlapping SVs

1 paper

chr2:69847614 C>T

NM_178439.5

p.T277I

c.830C>T

BACK

exact variant not in gnomAD148 overlapping SVs

1 paper

chr2:69847575 C>G

NM_178439.5

p.S264C

c.791C>G

BACK

exact variant not in gnomAD148 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."