Varaico: Literature-Extracted Genetic Variants

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

1–12 of 127 variants

10 papers

NM_001366722.1

p.V54I

c.160G>A

3 papers

NM_001366722.1

p.P78P

c.234A>T

3 papers

NM_021150.4

p.Y620*

c.1860C>A

2 papers

NM_001366722.1

p.K58E

c.172A>G

2 papers

NM_021150.4

p.K394_D395delFs

c.1181_1184del4

2 papers

NM_001366722.1

p.L454S

c.1361T>C

2 papers

NM_001366722.1

p.I549V

c.1645A>G

2 papers

NM_001366722.1

p.I586L

c.1756A>T

2 papers

NM_001366722.1

p.I586L

c.1756A>C

2 papers

NM_001366722.1

p.M742R

c.2225T>G

2 papers

NM_021150.4

p.A705Splc

c.2113+1G>C

2 papers

NM_021150.4

p.S707*

c.2120C>A