Varaico: Literature-Extracted Genetic Variants

Gene:TAMALIN
Variant:p.S217A

TAMALIN

179 papers

RefSeq Summary

This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved ...

Pfam Domains

PDZaa 101–187UCSCPDZ domain
PDZaa 101–187UCSCPDZ domain

Gene Aliases

HGNC Name

trafficking regulator and scaffold protein tamalin

HGNC Previous Symbol

GRASP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_181711.4
p.S217A
c.649T>G
Surrounding Variants
1 paper
NM_181711.4
p.Y215*
c.645C>A
1 paper
NM_181711.4
p.E222A
c.665A>C
1 paper
NM_181711.4
p.E222G
c.665A>G
1 paper
NM_181711.4
p.E210E
c.630G>A
1 paper
NM_181711.4
p.R224P
c.671G>C
1 paper
NM_181711.4
p.G189R
c.565G>A
1 paper
NM_181711.4
p.G189R
c.565G>C
1 paper
NM_181711.4
p.L187V
c.559C>G
1 paper
NM_181711.4
p.T186A
c.556A>G
1 paper
NM_181711.4
p.R183I
c.548G>T
1 paper
NM_181711.4
p.G179R
c.535G>C
1 paper
NM_181711.4
p.R169*
c.505C>T
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