Varaico: Literature-Extracted Genetic Variants

Gene:GCM1
Variant:p.P132Q

GCM1

38 papers

RefSeq Summary

This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-mo...

Pfam Domains

GCMaa 30–167UCSCGCM motif protein

Gene Aliases

HGNC Name

glial cells missing transcription factor 1

HGNC Previous Symbol

GCMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003643.4
p.P132Q
c.395C>A
Surrounding Variants
1 paper
NM_003643.4
p.G129E
c.386G>A
1 paper
NM_003643.4
p.L122F
c.364C>T
1 paper
NM_003643.4
p.I144T
c.431T>C
1 paper
NM_003643.4
p.R112C
c.334C>T
1 paper
NM_003643.4
p.T159T
c.477C>G
1 paper
NM_003643.4
p.K160_L161del1
c.480_482delAAC
1 paper
NM_003643.4
p.E188K
c.562G>A
1 paper
NM_003643.4
p.E188E
c.564G>A
1 paper
NM_003643.4
p.K103*
c.307A>T
1 paper
NM_003643.4
p.R92H
c.275G>A
1 paper
NM_003643.4
p.K74*
c.220A>T
1 paper
NM_003643.4
p.R54Q
c.161G>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."