Varaico: Literature-Extracted Genetic Variants

Gene:GCC1
Variant:p.R208M

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.R208M
c.623G>T
Surrounding Variants
1 paper
NM_024523.6
p.R210L
c.629G>T
1 paper
NM_024523.6
p.T225N
c.674C>A
1 paper
NM_024523.6
p.R181H
c.542G>A
1 paper
NM_024523.6
p.T174I
c.521C>T
1 paper
NM_024523.6
p.Q262R
c.785A>G
2 papers
NM_024523.6
p.R267K
c.800G>A
1 paper
NM_024523.6
p.R272insFs
c.814_815ins29
1 paper
NM_024523.6
p.R272fs
c.814_815fs
1 paper
NM_024523.6
p.A274T
c.820G>A
1 paper
NM_024523.6
p.S138C
c.412A>T
1 paper
NM_024523.6
p.L290V
c.868C>G
1 paper
NM_024523.6
p.L290R
c.869T>G
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