Varaico: Literature-Extracted Genetic Variants

Gene:KNDC1
Variant:p.R1027Q

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
3 papers
NM_152643.8
p.R1027Q
c.3080G>A
Surrounding Variants
1 paper
NM_152643.8
p.R1027W
c.3079C>T
1 paper
NM_152643.8
p.D1023D
c.3069C>T
1 paper
NM_152643.8
p.D1023G
c.3068A>G
1 paper
NM_152643.8
p.S1018L
c.3053C>T
1 paper
NM_152643.8
p.Q1037H
c.3111G>C
1 paper
NM_152643.8
p.Q1037H
c.3111G>T
1 paper
NM_152643.8
p.R1038_V1040del3
c.3112_3119del9
1 paper
NM_152643.8
p.V1040I
c.3118G>A
1 paper
NM_152643.8
p.A1002V
c.3005C>T
2 papers
NM_152643.8
p.R1055W
c.3163C>T
1 paper
NM_152643.8
p.A1057V
c.3170C>T
1 paper
NM_152643.8
p.R1071R
c.3213G>A
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