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.S400delFs

c.1198delA

Surrounding Variants

1 paper

NM_012116.4

p.S400fs

c.1198_1199fs

1 paper

NM_012116.4

p.A398delFs

c.1194delC

1 paper

NM_012116.4

p.G395V

c.1184G>T

3 papers

NM_012116.4

p.H405Y

c.1213C>T

1 paper

NM_012116.4

p.G406S

c.1216G>A

5 papers

NM_012116.4

p.E392K

c.1174G>A

1 paper

NM_012116.4

p.E411*

c.1231G>T

1 paper

NM_012116.4

p.S413*

c.1238C>A

1 paper

NM_012116.4

p.S413*

c.1238C>G

1 paper

NM_001130852.1

p.D372fs

c.1114_1115fs

5 papers

NM_001130852.1

p.D372insFs

c.1115_1116insC

NM_012116.4

p.Q419insFs

c.1255dupC

4 papers

NM_012116.4

p.Q419fs

c.1255_1256fs