Varaico: Literature-Extracted Genetic Variants

Gene:NHERF4
Variant:p.F426L

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.F426L
c.1276T>C
Surrounding Variants
1 paper
NM_001168468.2
p.F426L
c.1278C>A
1 paper
NM_001168468.2
p.F426L
c.1278C>G
1 paper
NM_001168468.2
p.Q401_C402ins2
c.1203_1204ins6
1 paper
NM_001168468.2
p.Q401*
c.1201C>T
1 paper
NM_001168468.2
p.P393R
c.1178C>G
1 paper
NM_001168468.2
p.L387F
c.1159C>T
1 paper
NM_001168468.2
p.Q429_V430Splc
c.1288-2A>C
1 paper
NM_001168468.2
p.R372Q
c.1115G>A
1 paper
NM_001168468.2
p.E366E
c.1098G>A
1 paper
NM_001168468.2
p.Q442Q
c.1326A>G
1 paper
NM_001168468.2
p.R355C
c.1063C>T
1 paper
NM_001168468.2
p.R463M
c.1388G>T
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