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

15 papers

NM_020774.4

p.R530*

c.1588C>T

Surrounding Variants

1 paper

NM_020774.4

p.R529R

c.1587C>T

1 paper

NM_020774.4

p.R530Q

c.1589G>A

1 paper

NM_020774.4

p.K528_R530Fs

c.1582_1589delinsGAGCCCFs

3 papers

NM_020774.4

p.R526*

c.1576C>T

1 paper

NM_020774.4

p.D522N

c.1564G>A

1 paper

NM_020774.4

p.L523_N524del2

c.1567_1571del6

1 paper

NM_020774.4

p.S520R

c.1560T>A

1 paper

NM_020774.4

p.S520R

c.1560T>G

1 paper

NM_020774.4

p.S520R

c.1558A>C

1 paper

NM_020774.4

p.S520C

c.1558A>T

1 paper

NM_020774.4

p.G541delFs

c.1622delG

1 paper

NM_020774.4

p.G541S

c.1621G>A