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.L255delFs

c.763_764delAG

Surrounding Variants

1 paper

NM_004655.4

p.L255L

c.765G>C

1 paper

NM_004655.4

p.L255fs

c.763_764fs

1 paper

NM_004655.4

p.R256_A257insFs

c.768_769insAG

3 papers

NM_004655.4

p.K253I

c.758A>T

1 paper

NM_004655.4

p.A259T

c.775G>A

1 paper

NM_004655.4

p.A259E

c.776C>A

2 papers

NM_004655.4

p.S260S

c.780T>C

1 paper

NM_004655.4

p.V248G

c.743T>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.T264M

c.791C>T