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.G72D

c.215G>A

Surrounding Variants

1 paper

NM_012116.4

p.G74S

c.220G>A

4 papers

NM_012116.4

p.A59D

c.176C>A

2 papers

NM_012116.4

p.R56P

c.167G>C

1 paper

NM_012116.4

p.D46N

c.136G>A

1 paper

NM_012116.4

p.R103Q

c.308G>A

1 paper

NM_012116.4

p.V39M

c.115G>A

1 paper

NM_012116.4

p.R112W

c.334C>T

1 paper

NM_012116.4

p.R116*

c.346A>T

2 papers

NM_012116.4

p.W8*

c.24G>A

2 papers

NM_012116.4

p.W8*

c.23G>A

1 paper

NM_012116.4

p.V5L

c.13G>C

1 paper

NM_012116.4

p.A4A

c.12G>C