Varaico: Literature-Extracted Genetic Variants

MIB1

203 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitina...

Pfam Domains

MIB_HERC2aa 15–72UCSCMib_herc2

ZZaa 79–124UCSCZinc finger, ZZ type

MIB_HERC2aa 154–219UCSCMib_herc2

SH3_15aa 246–311UCSCMind bomb SH3 repeat domain

SH3_15aa 333–397UCSCMind bomb SH3 repeat domain

Ank_2aa 435–527UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

MIB E3 ubiquitin protein ligase 1

HGNC Alias Symbols

DIP-1; KIAA1323; ZZANK2; ZZZ6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020774.4

p.R126*

c.376C>T

Surrounding Variants

1 paper

NM_020774.4

p.R123L

c.368G>T

1 paper

NM_020774.4

p.P130L

c.389C>T

1 paper

NM_020774.4

p.H119insFs

c.356dupA

1 paper

NM_020774.4

p.K117insFs

c.351dupA

1 paper

NM_020774.4

p.T110K

c.329C>A

1 paper

NM_020774.4

p.C109*

c.327C>A

1 paper

NM_020774.4

p.W98*

c.294G>A

1 paper

NM_020774.4

p.W98*

c.293G>A

1 paper

NM_020774.4

p.R97*

c.289C>T

1 paper

NM_020774.4

p.Q90R

c.269A>G

1 paper

NM_020774.4

p.K79_P92insFs

c.237_276dup40

1 paper

NM_020774.4

p.T147A

c.439A>G