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

1–12 of 862 variants

58 papers

NM_004655.4

p.P50S

c.148C>T

29 papers

NM_004655.4

p.R656*

c.1966C>T

22 papers

NM_004655.4

p.G665insFs

c.1994_1995insG

20 papers

NM_004655.4

p.G665delFs

c.1994delC

19 papers

NM_004655.4

p.A684V

c.2051C>T

18 papers

NM_004655.4

p.W663*

c.1989G>A

18 papers

NM_004655.4

p.L688L

c.2062C>T

18 papers

NM_004655.4

p.A758T

c.2272G>A

17 papers

NM_004655.4

p.P462P

c.1386C>T

15 papers

NM_004655.4

p.A603P

c.1807G>C

15 papers

NM_004655.4

p.G665fs

c.1993_1994fs

15 papers

NM_004655.4

p.S738F

c.2213C>T