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.V1292I

c.3874G>A

Surrounding Variants

1 paper

NM_173602.3

p.R1289S

c.3867G>C

1 paper

NM_173602.3

p.R1289S

c.3867G>T

1 paper

NM_173602.3

p.F1298V

c.3892T>G

1 paper

NM_173602.3

p.R1310W

c.3928C>T

1 paper

NM_173602.3

p.Q1327_G1328Splc

c.3981+1G>C

1 paper

NM_173602.3

p.G1261_L1262delFs

c.3783_3784delTC

1 paper

NM_173602.3

p.G1261fs

c.3781_3782fs

1 paper

NM_173602.3

p.L1223S

c.3668T>C

1 paper

NM_173602.3

p.Y1216H

c.3646T>C

1 paper

NM_173602.3

p.P1334A

c.4000C>G

1 paper

NM_173602.3

p.D1347H

c.4039G>C

1 paper

NM_173602.3

p.R1348Splc

c.4044-1G>A