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

7 papers

NM_004655.4

p.S658fs

c.1972_1973fs

Surrounding Variants

5 papers

NM_004655.4

p.S658delFs

c.1972delT

5 papers

NM_004655.4

p.R659W

c.1975C>T

1 paper

NM_004655.4

p.R659G

c.1975C>G

1 paper

NM_004655.4

p.R659Q

c.1976G>A

1 paper

NM_004655.4

p.R656Q

c.1967G>A

29 papers

NM_004655.4

p.R656*

c.1966C>T

3 papers

NM_004655.4

p.H660Y

c.1978C>T

1 paper

NM_004655.4

p.E655K

c.1963G>A

1 paper

NM_004655.4

p.H661H

c.1983T>C

8 papers

NM_004655.4

p.L662P

c.1985T>C

2 papers

NM_004655.4

p.W663G

c.1987T>G

2 papers

NM_004655.4

p.W663fs

c.1987_1988fs