Varaico: Literature-Extracted Genetic Variants

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.V620V

c.1860G>C

Surrounding Variants

3 papers

NM_152643.8

p.C603Y

c.1808G>A

1 paper

NM_152643.8

p.A596V

c.1787C>T

1 paper

NM_152643.8

p.R587*

c.1759C>T

1 paper

NM_152643.8

p.K578_V579Splc

c.1735-1G>T

1 paper

NM_152643.8

p.V653V

c.1959G>T

1 paper

NM_152643.8

p.E673K

c.2017G>A

1 paper

NM_152643.8

p.Q692H

c.2076G>C

1 paper

NM_152643.8

p.Q692H

c.2076G>T

1 paper

NM_152643.8

p.E698K

c.2092G>A

1 paper

NM_152643.8

p.G711C

c.2131G>T

1 paper

NM_152643.8

p.L717P

c.2150T>C

1 paper

NM_152643.8

p.P729T

c.2185C>A