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

1 paper

NM_020774.4

p.*1007insFs

c.3020_3021insC

Surrounding Variants

1 paper

NM_020774.4

p.R1001*

c.3001C>T

3 papers

NM_020774.4

p.C995S

c.2984G>C

3 papers

NM_020774.4

p.C995S

c.2983T>A

1 paper

NM_020774.4

p.C992R

c.2974T>C

1 paper

NM_020774.4

p.S990I

c.2969G>T

2 papers

NM_020774.4

p.M989R

c.2966T>G

3 papers

NM_020774.4

p.R988C

c.2962C>T

3 papers

NM_020774.4

p.C985S

c.2954G>C

3 papers

NM_020774.4

p.C985S

c.2953T>A

1 paper

NM_020774.4

p.M973I

c.2919G>A

1 paper

NM_020774.4

p.M973I

c.2919G>C

1 paper

NM_020774.4

p.M973I

c.2919G>T