Varaico: Literature-Extracted Genetic Variants

MIB2

66 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion...

Pfam Domains

MIB_HERC2aa 12–78UCSCMib_herc2

ZZaa 85–128UCSCZinc finger, ZZ type

MIB_HERC2aa 160–225UCSCMib_herc2

SH3_15aa 257–322UCSCMind bomb SH3 repeat domain

Gene Aliases

HGNC Name

MIB E3 ubiquitin protein ligase 2

HGNC Previous Symbol

ZZANK1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

6 papers

NM_001170687.4

p.M102T

c.305T>C

2 papers

NM_001170687.4

p.H42Y

c.124C>T

1 paper

NM_001170687.4

p.M1R

c.2T>G

1 paper

NM_001170687.4

p.M1I

c.3G>A

1 paper

NM_001170687.4

p.M1I

c.3G>C

1 paper

NM_001170687.4

p.M1I

c.3G>T

1 paper

NM_001170687.4

p.D20A

c.59A>C

1 paper

NM_001170687.4

p.G24D

c.71G>A

1 paper

NM_001170687.4

p.G29G

c.87C>T

1 paper

NM_001170687.4

p.V37V

c.111G>A

1 paper

NM_001170687.4

p.R50P

c.149G>C

1 paper

NM_001170687.4

p.H72Q

c.216C>G