Varaico: Literature-Extracted Genetic Variants

Gene:GRIP1
Variant:p.L454S

GRIP1

180 papers

RefSeq Summary

This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembra...

Pfam Domains

PDZaa 53–133UCSCPDZ domain
PDZaa 152–235UCSCPDZ domain
PDZaa 252–333UCSCPDZ domain
PDZ_6aa 502–558UCSCPDZ domain
PDZaa 573–655UCSCPDZ domain
PDZaa 673–752UCSCPDZ domain

Gene Aliases

HGNC Name

glutamate receptor interacting protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001366722.1
p.L454S
c.1361T>C
Surrounding Variants
1 paper
NM_001366722.1
p.A455P
c.1363G>C
1 paper
NM_001366722.1
p.A477T
c.1429G>A
1 paper
NM_001366722.1
p.D478A
c.1433A>C
1 paper
NM_001366722.1
p.S498F
c.1493C>T
1 paper
NM_001366722.1
p.Y505F
c.1514A>T
1 paper
NM_001366722.1
p.E538K
c.1612G>A
2 papers
NM_001366722.1
p.I549V
c.1645A>G
1 paper
NM_001366722.1
p.T550M
c.1649C>T
1 paper
NM_001366722.1
p.E558A
c.1673A>C
1 paper
NM_001366722.1
p.D560G
c.1679A>G
2 papers
NM_021150.4
p.K394_D395delFs
c.1181_1184del4
1 paper
NM_021150.4
p.S381I
c.1142G>T
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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."