Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.T350M

COG1

110 papers

RefSeq Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is requ...

Pfam Domains

VPS51_Exo84_Naa 12–93UCSCVps51/EXO84/COG1 N-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 1

HGNC Previous Symbol

LDLB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_018714.3
p.T350M
c.1049C>T
Surrounding Variants
1 paper
NM_018714.3
p.Y346C
c.1037A>G
1 paper
NM_018714.3
p.Y346H
c.1036T>C
1 paper
NM_018714.3
p.I355I
c.1065C>A
1 paper
NM_018714.3
p.M357fs
c.1069_1070fs
1 paper
NM_018714.3
p.M357Splc
c.1070+3A>G
8 papers
NM_018714.3
p.M357Splc
c.1070+5G>A
1 paper
NM_018714.3
p.H323_L324insT
c.967_971ins3
2 papers
NM_018714.3
p.C318_W320delFs
c.954_958del5
1 paper
NM_018714.3
p.K306E
c.916A>G
1 paper
NM_018714.3
p.A385T
c.1153G>A
1 paper
NM_018714.3
p.W387delFs
c.1160delG
4 papers
NM_018714.3
p.N392S
c.1175A>G
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