Varaico: Literature-Extracted Genetic Variants

Gene:NGEF
Variant:p.S284F

NGEF

70 papers

Pfam Domains

RhoGEFaa 277–455UCSCRhoGEF domain
SOS1_NGEF_PHaa 484–598UCSCSOS1/NGEF-like PH domain
SH3_1aa 619–665UCSCSH3 domain

Gene Aliases

HGNC Name

neuronal guanine nucleotide exchange factor

HGNC Alias Symbol

ARHGEF27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019850.3
p.S284F
c.851C>T
Surrounding Variants
1 paper
NM_019850.3
p.A286S
c.856G>T
1 paper
NM_019850.3
p.A286V
c.857C>T
1 paper
NM_019850.3
p.E313K
c.937G>A
1 paper
NM_019850.3
p.V327I
c.979G>A
1 paper
NM_019850.3
p.R330Splc
c.990-4G>A
1 paper
NM_019850.3
p.E336E
c.1008G>A
3 papers
NM_019850.3
p.V348M
c.1042G>A
1 paper
NM_019850.3
p.A357D
c.1070C>A
1 paper
NM_019850.3
p.T371A
c.1111A>G
1 paper
NM_019850.3
p.E383E
c.1149G>A
1 paper
NM_019850.3
p.A392T
c.1174G>A
1 paper
NM_019850.3
p.D397N
c.1189G>A
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