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.S927Splc

c.2779+1G>C

Surrounding Variants

1 paper

NM_020774.4

p.R906fs

c.2716_2717fs

3 papers

NM_020774.4

p.R906*

c.2716C>T

2 papers

NM_020774.4

p.R901*

c.2701C>T

1 paper

NM_020774.4

p.V898fs

c.2692_2693fs

1 paper

NM_020774.4

p.V898delFs

c.2693_2694delTG

1 paper

NM_020774.4

p.S927Splc

c.2780-2A>G

1 paper

NM_020774.4

p.V933_L934insAA

c.2797_2801ins6

16 papers

NM_020774.4

p.V943F

c.2827G>T

1 paper

NM_020774.4

p.L954V

c.2860T>G

2 papers

NM_020774.4

p.M884fs

c.2650_2651fs

2 papers

NM_020774.4

p.M884delFs

c.2650_2651delAT

1 paper

NM_020774.4

p.Q879fs

c.2635_2636fs