Varaico: Literature-Extracted Genetic Variants

Gene:NHERF4
Variant:p.S318S

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.S318S
c.954C>T
Surrounding Variants
1 paper
NM_001168468.2
p.A313T
c.937G>A
1 paper
NM_001168468.2
p.R310W
c.928C>T
1 paper
NM_001168468.2
p.S329A
c.985T>G
1 paper
NM_001168468.2
p.G335D
c.1004G>A
1 paper
NM_001168468.2
p.R349H
c.1046G>A
1 paper
NM_001168468.2
p.R355C
c.1063C>T
1 paper
NM_001168468.2
p.E366E
c.1098G>A
1 paper
NM_001168468.2
p.R372Q
c.1115G>A
1 paper
NM_001168468.2
p.L387F
c.1159C>T
1 paper
NM_001168468.2
p.P393R
c.1178C>G
1 paper
NM_001168468.2
p.Q401*
c.1201C>T
1 paper
NM_001168468.2
p.Q401_C402ins2
c.1203_1204ins6
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