Varaico: Literature-Extracted Genetic Variants

Gene:GCC1
Variant:p.L527V

GCC1

52 papers

RefSeq Summary

The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a r...

Pfam Domains

GRIPaa 717–760UCSCGRIP domain

Gene Aliases

HGNC Name

GRIP and coiled-coil domain containing 1

HGNC Alias Symbols

FLJ22035; GCC88; GCC1P; MGC20706

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024523.6
p.L527V
c.1579C>G
Surrounding Variants
1 paper
NM_024523.6
p.E540E
c.1620G>A
1 paper
NM_024523.6
p.R558Q
c.1673G>A
1 paper
NM_024523.6
p.R564L
c.1691G>T
1 paper
NM_024523.6
p.T477I
c.1430C>T
1 paper
NM_024523.6
p.R577P
c.1730G>C
2 papers
NM_024523.6
p.E598A
c.1793A>C
1 paper
NM_024523.6
p.L603V
c.1807C>G
1 paper
NM_024523.6
p.L606insFs
c.1818dupG
1 paper
NM_024523.6
p.G628E
c.1883G>A
1 paper
NM_024523.6
p.E424K
c.1270G>A
1 paper
NM_024523.6
p.A412T
c.1234G>A
1 paper
NM_024523.6
p.N649S
c.1946A>G
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