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.R129_V130insFs

c.387_388insC

Surrounding Variants

1 paper

NM_004655.4

p.R129P

c.386G>C

2 papers

NM_004655.4

p.L128delFs

c.382_383delAA

1 paper

NM_004655.4

p.L128S

c.383T>C

1 paper

NM_004655.4

p.A131V

c.392C>T

1 paper

NM_004655.4

p.Q119_A131del0

c.356_391del36

1 paper

NM_004655.4

p.L128fs

c.382_383fs

2 papers

NM_004655.4

p.T127I

c.380C>T

1 paper

NM_004655.4

p.K132*

c.394A>T

3 papers

NM_004655.4

p.K132R

c.395A>G

1 paper

NM_004655.4

p.K126N

c.378A>T

1 paper

NM_004655.4

p.K126N

c.378A>C

1 paper

NM_004655.4

p.A133_I134ins6

c.397_401ins18