Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.E620K

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.E620K
c.1858G>A
Surrounding Variants
1 paper
NM_181453.4
p.E620E
c.1860A>G
1 paper
NM_181453.4
p.S606F
c.1817C>T
1 paper
NM_181453.4
p.K644K
c.1932G>A
1 paper
NM_181453.4
p.T593S
c.1778C>G
1 paper
NM_181453.4
p.T593S
c.1777A>T
1 paper
NM_181453.4
p.D660E
c.1980T>A
1 paper
NM_181453.4
p.D660E
c.1980T>G
1 paper
NM_181453.4
p.K680del1
c.2038_2040delAAA
1 paper
NM_181453.4
p.E700fs
c.2098_2099fs
1 paper
NM_181453.4
p.R539C
c.1615C>T
1 paper
NM_181453.4
p.K702fs
c.2104_2105fs
1 paper
NM_181453.4
p.V710G
c.2129T>G
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