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

18 papers

NM_004655.4

p.L688L

c.2062C>T

Surrounding Variants

2 papers

NM_004655.4

p.L688fs

c.2062_2063fs

2 papers

NM_004655.4

p.L688insFs

c.2063_2064insT

1 paper

NM_004655.4

p.L688fs

c.2062_2063fs

2 papers

NM_004655.4

p.L688delFs

c.2062_2063delAG

1 paper

NM_004655.4

p.T689fs

c.2065_2066fs

1 paper

NM_004655.4

p.T689fs

c.2065_2066fs

1 paper

NM_004655.4

p.P691ins1

c.2071_2072insTTG

1 paper

NM_004655.4

p.A684A

c.2052G>A

19 papers

NM_004655.4

p.A684V

c.2051C>T

1 paper

NM_004655.4

p.P691P

c.2073C>A

3 papers

NM_004655.4

p.T693M

c.2078C>T

1 paper

NM_004655.4

p.T693delFs

c.2078delG