Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.K1597R

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
9 papers
NM_181453.4
p.K1597R
c.4790A>G
Surrounding Variants
1 paper
NM_181453.4
p.E1608G
c.4823A>G
1 paper
NM_181453.4
p.R1609Q
c.4826G>A
1 paper
NM_181453.4
p.P1650L
c.4949C>T
1 paper
NM_181453.4
p.G1654V
c.4961G>T
1 paper
NM_181453.4
p.A1572V
c.4715C>T
1 paper
NM_181453.4
p.W1552R
c.4654T>A
1 paper
NM_181453.4
p.W1552R
c.4654T>C
1 paper
NM_181453.4
p.E1544K
c.4630G>A
1 paper
NM_181453.4
p.T1523A
c.4567A>G
1 paper
NM_181453.4
p.R1448L
c.4343G>T
1 paper
NM_181453.4
p.D1445N
c.4333G>A
1 paper
NM_181453.4
p.N1436N
c.4308C>T
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