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.S244fs

c.730_731fs

Surrounding Variants

5 papers

NM_004655.4

p.S244L

c.731C>T

5 papers

NM_004655.4

p.P245S

c.733C>T

1 paper

NM_004655.4

p.T246T

c.738C>T

2 papers

NM_004655.4

p.C241G

c.721T>G

2 papers

NM_004655.4

p.V247L

c.739G>T

2 papers

NM_004655.4

p.V247L

c.739G>C

1 paper

NM_004655.4

p.V247M

c.739G>A

1 paper

NM_004655.4

p.V248G

c.743T>G

3 papers

NM_004655.4

p.F239F

c.717C>T

2 papers

NM_004655.4

p.F239L

c.717C>G

2 papers

NM_004655.4

p.F239L

c.717C>A

2 papers

NM_004655.4

p.F239L

c.715T>C