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.P412delFs

c.1235_1236delCT

Surrounding Variants

1 paper

NM_152643.8

p.P409L

c.1226C>T

1 paper

NM_152643.8

p.A406A

c.1218A>T

1 paper

NM_152643.8

p.D424D

c.1272C>T

1 paper

NM_152643.8

p.E426D

c.1278G>C

1 paper

NM_152643.8

p.E426D

c.1278G>T

1 paper

NM_152643.8

p.E397K

c.1189G>A

1 paper

NM_152643.8

p.E436fs

c.1306_1307fs

1 paper

NM_152643.8

p.P365P

c.1095G>A

2 papers

NM_152643.8

p.L363L

c.1089G>C

1 paper

NM_152643.8

p.L346_D347del1

c.1038_1040delGGA

1 paper

NM_152643.8

p.F337L

c.1011C>A

1 paper

NM_152643.8

p.F337L

c.1011C>G