Varaico: Literature-Extracted Genetic Variants

Gene:GLDN
Variant:p.V463G

GLDN

81 papers

RefSeq Summary

This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ra...

Pfam Domains

Collagenaa 166–225UCSCCollagen triple helix repeat (20 copies)
OLFaa 295–547UCSCOlfactomedin-like domain

Gene Aliases

HGNC Name

gliomedin

HGNC Previous Symbol

COLM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181789.4
p.V463G
c.1388T>G
Surrounding Variants
1 paper
NM_181789.4
p.V459V
c.1377G>T
1 paper
NM_181789.4
p.A475T
c.1423G>A
5 papers
NM_181789.4
p.A475P
c.1423G>C
4 papers
NM_181789.4
p.F476L
c.1426T>C
4 papers
NM_181789.4
p.F476L
c.1428C>A
4 papers
NM_181789.4
p.F476L
c.1428C>G
1 paper
NM_181789.4
p.R479G
c.1435C>G
5 papers
NM_181789.4
p.R479*
c.1435C>T
1 paper
NM_181789.4
p.R479Q
c.1436G>A
3 papers
NM_181789.4
p.R479P
c.1436G>C
1 paper
NM_181789.4
p.S445L
c.1334C>T
1 paper
NM_181789.4
p.A439A
c.1317G>A
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