Varaico: Literature-Extracted Genetic Variants

AXIN2

682 papers

RefSeq Summary

The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil....

Pfam Domains

AXIN1_TNKS_BDaa 9–75UCSCAxin-1 tankyrase binding domain

RGSaa 81–199UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 433–469UCSCAxin beta-catenin binding motif

DIXaa 763–839UCSCDIX domain

Gene Aliases

HGNC Name

axin 2

HGNC Alias Symbols

MGC126582; DKFZp781B0869

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004655.4

p.K123M

c.368A>T

Surrounding Variants

1 paper

NM_004655.4

p.K123T

c.368A>C

2 papers

NM_004655.4

p.K123insFs

c.368_369insC

1 paper

NM_004655.4

p.K123K

c.369G>A

1 paper

NM_004655.4

p.N121_L122del2

c.361_365del6

1 paper

NM_004655.4

p.D124N

c.370G>A

1 paper

NM_004655.4

p.L122R

c.365T>G

1 paper

NM_004655.4

p.M120I

c.360G>T

1 paper

NM_004655.4

p.M120I

c.360G>C

1 paper

NM_004655.4

p.M120I

c.360G>A

1 paper

NM_004655.4

p.K126E

c.376A>G

1 paper

NM_004655.4

p.K126R

c.377A>G

1 paper

NM_004655.4

p.K126N

c.378A>T