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.R703M

c.2108G>T

Surrounding Variants

1 paper

NM_004655.4

p.R703R

c.2109G>A

1 paper

NM_004655.4

p.R702C

c.2104C>T

1 paper

NM_004655.4

p.C701delFs

c.2102delC

1 paper

NM_004655.4

p.A700delFs

c.2100delG

3 papers

NM_004655.4

p.E706*

c.2116G>T

4 papers

NM_004655.4

p.E698*

c.2092G>T

1 paper

NM_004655.4

p.K709R

c.2126A>G

1 paper

NM_004655.4

p.Q696R

c.2087A>G

4 papers

NM_004655.4

p.Q696*

c.2086C>T

2 papers

NM_004655.4

p.A695insFs

c.2084_2085insG

4 papers

NM_004655.4

p.A695delFs

c.2083delC

5 papers

NM_004655.4

p.A695S

c.2083G>T