Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.E810D

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.E810D
c.2430G>C
Surrounding Variants
1 paper
NM_181453.4
p.E810D
c.2430G>T
1 paper
NM_181453.4
p.R804H
c.2411G>A
1 paper
NM_181453.4
p.L818F
c.2452C>T
1 paper
NM_181453.4
p.E821del1
c.2461_2462delGAG
1 paper
NM_181453.4
p.E853G
c.2558A>G
1 paper
NM_181453.4
p.G767R
c.2299G>A
1 paper
NM_181453.4
p.G767R
c.2299G>C
1 paper
NM_181453.4
p.Q876*
c.2626C>T
1 paper
NM_181453.4
p.V710G
c.2129T>G
1 paper
NM_181453.4
p.K702fs
c.2104_2105fs
1 paper
NM_181453.4
p.E700fs
c.2098_2099fs
1 paper
NM_181453.4
p.K680del1
c.2038_2040delAAA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."