Varaico: Literature-Extracted Genetic Variants

Gene:NHERF4
Variant:p.Q226K

NHERF4

49 papers

RefSeq Summary

Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation ...

Gene Aliases

HGNC Name

NHERF family PDZ scaffold protein 4

HGNC Previous Symbols

PDZK2; PDZD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001168468.2
p.Q226K
c.676C>A
Surrounding Variants
1 paper
NM_001168468.2
p.R241C
c.721C>T
NM_024791.4
p.R227C
c.679C>T
1 paper
NM_001168468.2
p.P258T
c.772C>A
1 paper
NM_001168468.2
p.R262H
c.785G>A
1 paper
NM_001168468.2
p.V203E
c.608T>A
2 papers
NM_001168468.2
p.E202*
c.604G>T
1 paper
NM_001168468.2
p.P196fs
c.586_587fs
1 paper
NM_001168468.2
p.R191Q
c.572G>A
1 paper
NM_001168468.2
p.G187V
c.560G>T
1 paper
NM_001168468.2
p.R310W
c.928C>T
1 paper
NM_001168468.2
p.A313T
c.937G>A
1 paper
NM_001168468.2
p.S318S
c.954C>T
1 paper
NM_001168468.2
p.S329A
c.985T>G
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