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.S202R

c.604A>C

Surrounding Variants

1 paper

NM_004655.4

p.R201S

c.603G>T

1 paper

NM_004655.4

p.R201S

c.603G>C

1 paper

NM_004655.4

p.S202R

c.606T>G

1 paper

NM_004655.4

p.S202R

c.606T>A

1 paper

NM_004655.4

p.G203R

c.607G>C

1 paper

NM_004655.4

p.G203R

c.607G>A

1 paper

NM_004655.4

p.G203Fs

c.608delinsAGFs

1 paper

NM_004655.4

p.V200V

c.600G>A

2 papers

NM_004655.4

p.V200M

c.598G>A

1 paper

NM_004655.4

p.G204fs

c.610_611fs

1 paper

NM_004655.4

p.G204delFs

c.611delC

1 paper

NM_004655.4

p.E198E

c.594A>G