Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.Q328H

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.Q328H
c.984A>C
Surrounding Variants
1 paper
NM_181453.4
p.Q328H
c.984A>T
1 paper
NM_181453.4
p.I318V
c.952A>G
1 paper
NM_181453.4
p.Q314R
c.941A>G
1 paper
NM_181453.4
p.N313delFs
c.937_938delAA
1 paper
NM_181453.4
p.T356I
c.1067C>T
1 paper
NM_181453.4
p.Y357C
c.1070A>G
1 paper
NM_181453.4
p.D374H
c.1120G>C
1 paper
NM_181453.4
p.F377_H378insFs
c.1131_1132insT
1 paper
NM_181453.4
p.F377fs
c.1129_1130fs
1 paper
NM_181453.4
p.E250Q
c.748G>C
1 paper
NM_181453.4
p.E425fs
c.1273_1274fs
1 paper
NM_181453.4
p.Q231fs
c.691_692fs
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