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.R301H

c.902G>A

Surrounding Variants

1 paper

NM_152643.8

p.Q306*

c.916C>T

1 paper

NM_152643.8

p.D284_A285delFs

c.852_855del4

1 paper

NM_152643.8

p.R326H

c.977G>A

1 paper

NM_152643.8

p.R275Q

c.824G>A

1 paper

NM_152643.8

p.F337L

c.1009T>C

2 papers

NM_152643.8

p.T265I

c.794C>T

1 paper

NM_152643.8

p.F337L

c.1011C>A

1 paper

NM_152643.8

p.F337L

c.1011C>G

1 paper

NM_152643.8

p.L346_D347del1

c.1038_1040delGGA

1 paper

NM_152643.8

p.R252Q

c.755G>A

1 paper

NM_152643.8

p.E249Q

c.745G>C

1 paper

NM_152643.8

p.G245C

c.733G>T