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.T227insFs

c.679_680insAG

Surrounding Variants

1 paper

NM_004655.4

p.T227N

c.680C>A

1 paper

NM_004655.4

p.T227P

c.679A>C

5 papers

NM_004655.4

p.L228M

c.682T>A

2 papers

NM_004655.4

p.L228F

c.684G>T

2 papers

NM_004655.4

p.L228F

c.684G>C

1 paper

NM_004655.4

p.L225insFs

c.674dupT

1 paper

NM_004655.4

p.L225fs

c.673_674fs

2 papers

NM_004655.4

p.E231K

c.691G>A

1 paper

NM_004655.4

p.G223D

c.668G>A

1 paper

NM_004655.4

p.C222_G223insFs

c.666_667insA

1 paper

NM_004655.4

p.E233*

c.697G>T

1 paper

NM_004655.4

p.V221L

c.661G>T