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

1–12 of 105 variants

7 papers

NM_012116.4

p.K153T

c.458A>C

6 papers

NM_012116.4

p.P435S

c.1303C>T

5 papers

NM_012116.4

p.E392K

c.1174G>A

4 papers

NM_012116.4

p.A59D

c.176C>A

4 papers

NM_012116.4

p.Q419insFs

c.1255dupC

4 papers

NM_012116.4

p.Q419fs

c.1255_1256fs

3 papers

NM_012116.4

p.M344V

c.1030A>G

3 papers

NM_012116.4

p.H405Y

c.1213C>T

2 papers

NM_012116.4

p.W8*

c.23G>A

2 papers

NM_012116.4

p.W8*

c.24G>A

2 papers

NM_012116.4

p.R56P

c.167G>C

2 papers

NM_012116.4

p.L178F

c.532C>T