Varaico: Literature-Extracted Genetic Variants

CBLC

115 papers

RefSeq Summary

This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. ...

Pfam Domains

Cbl_Naa 13–145UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 149–232UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 234–319UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4_3aa 347–396UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

Cbl proto-oncogene C

HGNC Alias Symbols

CBL-3; CBL-SL; RNF57

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_012116.4

p.S372insFs

c.1115_1116insC

Surrounding Variants

1 paper

NM_012116.4

p.C371R

c.1111T>C

1 paper

NM_012116.4

p.H368_C371del0

c.1104_1112del9

1 paper

NM_012116.4

p.P365Q

c.1094C>A

1 paper

NM_012116.4

p.P365L

c.1094C>T

1 paper

NM_012116.4

p.D360H

c.1078G>C

1 paper

NM_012116.4

p.K352N

c.1056G>C

1 paper

NM_012116.4

p.K352N

c.1056G>T

3 papers

NM_012116.4

p.M344V

c.1030A>G

1 paper

NM_012116.4

p.E336G

c.1007A>G

5 papers

NM_012116.4

p.E392K

c.1174G>A

1 paper

NM_012116.4

p.G395V

c.1184G>T

1 paper

NM_012116.4

p.A398delFs

c.1194delC