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.P1241S

c.3721C>T

Surrounding Variants

1 paper

NM_152643.8

p.N1236N

c.3708C>T

1 paper

NM_152643.8

p.Y1235_N1236del1

c.3704_3706delACA

1 paper

NM_152643.8

p.Y1235_N1236del2

c.3703_3707del6

1 paper

NM_152643.8

p.S1265I

c.3794G>T

3 papers

NM_152643.8

p.A1216T

c.3646G>A

1 paper

NM_152643.8

p.A1215S

c.3643G>T

1 paper

NM_152643.8

p.A1214T

c.3640G>A

1 paper

NM_152643.8

p.E1198K

c.3592G>A

1 paper

NM_152643.8

p.Q1193_V1194Splc

c.3580-1G>A

1 paper

NM_152643.8

p.L1187W

c.3560T>G

1 paper

NM_152643.8

p.M1178I

c.3534G>A

1 paper

NM_152643.8

p.M1178I

c.3534G>C