Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.K1362N

GCC2

103 papers

RefSeq Summary

The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to ...

Pfam Domains

Rab_bindaa 1547–1612UCSCRab binding domain
GRIPaa 1613–1656UCSCGRIP domain

Gene Aliases

HGNC Name

GRIP and coiled-coil domain containing 2

HGNC Alias Symbols

GCC185; KIAA0336

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181453.4
p.K1362N
c.4086A>C
Surrounding Variants
1 paper
NM_181453.4
p.K1362N
c.4086A>T
1 paper
NM_181453.4
p.H1328Y
c.3982C>T
1 paper
NM_181453.4
p.K1422N
c.4266A>C
1 paper
NM_181453.4
p.K1422N
c.4266A>T
1 paper
NM_181453.4
p.N1436N
c.4308C>T
1 paper
NM_181453.4
p.D1445N
c.4333G>A
1 paper
NM_181453.4
p.R1448L
c.4343G>T
1 paper
NM_181453.4
p.K1310_A1311Splc
c.3930+4C>T
1 paper
NM_181453.4
p.A1301T
c.3901G>A
1 paper
NM_181453.4
p.Y1295H
c.3883T>C
1 paper
NM_181453.4
p.T1291M
c.3872C>T
4 papers
NM_181453.4
p.H1280Y
c.3838C>T
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