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

1–12 of 178 variants

4 papers

NM_152643.8

p.A128S

c.382G>T

3 papers

NM_152643.8

p.C603Y

c.1808G>A

3 papers

NM_152643.8

p.R1027Q

c.3080G>A

3 papers

NM_152643.8

p.A1216T

c.3646G>A

2 papers

NM_152643.8

p.R46W

c.136C>T

2 papers

NM_152643.8

p.F204F

c.612C>T

2 papers

NM_152643.8

p.G231R

c.691G>A

2 papers

NM_152643.8

p.G231R

c.691G>C

2 papers

NM_152643.8

p.T265I

c.794C>T

2 papers

NM_152643.8

p.L363L

c.1089G>C

2 papers

NM_152643.8

p.V806D

c.2417T>A

2 papers

NM_152643.8

p.V806delins

c.2417_2418delinsAC