Varaico: Literature-Extracted Genetic Variants

Gene:KNDC1
Variant:p.Y124*

KNDC1

136 papers

RefSeq Summary

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endot...

Pfam Domains

KINDaa 37–183UCSCKinase non-catalytic C-lobe domain
RasGEF_Naa 1249–1348UCSCRasGEF N-terminal motif
RasGEFaa 1471–1678UCSCRasGEF domain

Gene Aliases

HGNC Name

kinase non-catalytic C-lobe domain containing 1

HGNC Previous Symbols

RASGEF2; C10orf23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152643.8
p.Y124*
c.372C>G
Surrounding Variants
4 papers
NM_152643.8
p.A128S
c.382G>T
1 paper
NM_152643.8
p.T129M
c.386C>T
1 paper
NM_152643.8
p.A133T
c.397G>A
1 paper
NM_152643.8
p.L146_S147insFs
c.438_439insCA
1 paper
NM_152643.8
p.A152V
c.455C>T
1 paper
NM_152643.8
p.L154P
c.461T>C
1 paper
NM_152643.8
p.S155G
c.463A>G
1 paper
NM_152643.8
p.R156Q
c.467G>A
1 paper
NM_152643.8
p.G163R
c.487G>A
1 paper
NM_152643.8
p.G163R
c.487G>C
1 paper
NM_152643.8
p.D164Y
c.490G>T
1 paper
NM_152643.8
p.V187V
c.561G>A
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