Varaico: Literature-Extracted Genetic Variants

Gene:NGEF
Variant:p.E456K

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
2 papers
NM_019850.3
p.E456K
c.1366G>A
Surrounding Variants
1 paper
NM_019850.3
p.V458I
c.1372G>A
1 paper
NM_019850.3
p.R549H
c.1646G>A
1 paper
NM_019850.3
p.D574D
c.1722C>T
1 paper
NM_019850.3
p.Q586Splc
c.1757+11C>T
1 paper
NM_019850.3
p.N425D
c.1273A>G
1 paper
NM_019850.3
p.S606A
c.1816T>G
1 paper
NM_019850.3
p.R610Q
c.1829G>A
1 paper
NM_019850.3
p.V620M
c.1858G>A
1 paper
NM_019850.3
p.E630D
c.1890G>T
1 paper
NM_019850.3
p.E630D
c.1890G>C
1 paper
NM_019850.3
p.W649R
c.1945T>C
1 paper
NM_019850.3
p.W649R
c.1945T>A
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