Varaico: Literature-Extracted Genetic Variants

Gene:GCC2

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
1–12 of 97 variants
9 papers
NM_181453.4
p.K1597R
c.4790A>G
4 papers
NM_181453.4
p.Q1134E
c.3400C>G
4 papers
NM_181453.4
p.H1280Y
c.3838C>T
3 papers
NM_181453.4
p.M1098V
c.3292A>G
2 papers
NM_181453.4
p.S1057S
c.3171G>A
1 paper
NM_181453.4
p.D3H
c.7G>C
1 paper
NM_181453.4
p.S20C
c.59C>G
1 paper
NM_181453.4
p.K72_A73Splc
c.217-128A>G
1 paper
NM_181453.4
p.L93F
c.277C>T
1 paper
NM_181453.4
p.K96R
c.287A>G
1 paper
NM_181453.4
p.Q104L
c.311A>T
1 paper
NM_181453.4
p.I125T
c.374T>C
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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."