Varaico: Literature-Extracted Genetic Variants

DIP2B

113 papers

RefSeq Summary

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated p...

Pfam Domains

DMAP_bindingaa 12–131UCSCDMAP1-binding Domain

AMP-bindingaa 346–764UCSCAMP-binding enzyme

AMP-bindingaa 995–1405UCSCAMP-binding enzyme

AMP-dom_DIP2-likeaa 1464–1571UCSCDisco-interacting protein 2-like, AMP domain

Gene Aliases

HGNC Name

disco interacting protein 2 homolog B

HGNC Alias Symbols

KIAA1463; FLJ34278

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173602.3

p.I247T

c.740T>C

Surrounding Variants

1 paper

NM_173602.3

p.R236H

c.707G>A

1 paper

NM_173602.3

p.E302K

c.904G>A

1 paper

NM_173602.3

p.F208S

c.623T>C

1 paper

NM_173602.3

p.S190F

c.569C>T

1 paper

NM_173602.3

p.S186A

c.556T>G

1 paper

NM_173602.3

p.D143Splc

c.428-12A>T

1 paper

NM_173602.3

p.W335Fs

c.1003delinsGAFs

1 paper

NM_173602.3

p.R345C

c.1033C>T

1 paper

NM_173602.3

p.G347C

c.1039G>T

1 paper

NM_173602.3

p.S354P

c.1060T>C

1 paper

NM_173602.3

p.T384I

c.1151C>T

1 paper

NM_173602.3

p.L386F

c.1156C>T