Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.M1098V

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
3 papers
NM_181453.4
p.M1098V
c.3292A>G
Surrounding Variants
1 paper
NM_181453.4
p.D1100H
c.3298G>C
1 paper
NM_181453.4
p.E1102*
c.3304G>T
1 paper
NM_181453.4
p.I1064M
c.3192A>G
2 papers
NM_181453.4
p.S1057S
c.3171G>A
1 paper
NM_181453.4
p.R1039C
c.3115C>T
1 paper
NM_181453.4
p.L1033V
c.3097C>G
1 paper
NM_181453.4
p.L1131_Q1132insT
c.3391_3395ins3
4 papers
NM_181453.4
p.Q1134E
c.3400C>G
1 paper
NM_181453.4
p.K1150_D1151Splc
c.3451-4G>T
1 paper
NM_181453.4
p.T1205Splc
c.3613+3G>A
1 paper
NM_181453.4
p.T1205Splc
c.3614-2A>G
1 paper
NM_181453.4
p.Q1246K
c.3736C>A
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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."