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

1 paper

NM_012116.4

p.W160C

c.480G>T

Surrounding Variants

1 paper

NM_012116.4

p.W160C

c.480G>C

1 paper

NM_012116.4

p.H157fs

c.469_470fs

1 paper

NM_012116.4

p.G165R

c.493G>A

1 paper

NM_012116.4

p.G165R

c.493G>C

1 paper

NM_012116.4

p.A154fs

c.460_461fs

1 paper

NM_012116.4

p.A154delFs

c.461delC

7 papers

NM_012116.4

p.K153T

c.458A>C

1 paper

NM_012116.4

p.M131I

c.393G>A

1 paper

NM_012116.4

p.M131I

c.393G>C

1 paper

NM_012116.4

p.M131I

c.393G>T

1 paper

NM_012116.4

p.F128L

c.384C>G

1 paper

NM_012116.4

p.R119Q

c.356G>A