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

3 papers

NM_004655.4

p.A761D

c.2282C>A

Surrounding Variants

1 paper

NM_004655.4

p.A761S

c.2281G>T

1 paper

NM_004655.4

p.S762C

c.2284A>T

10 papers

NM_004655.4

p.S762N

c.2285G>A

2 papers

NM_004655.4

p.E763fs

c.2287_2288fs

1 paper

NM_004655.4

p.L759P

c.2276T>C

2 papers

NM_004655.4

p.A758V

c.2273C>T

1 paper

NM_004655.4

p.L764F

c.2292G>T

1 paper

NM_004655.4

p.L764F

c.2292G>C

18 papers

NM_004655.4

p.A758T

c.2272G>A

1 paper

NM_004655.4

p.V765F

c.2293G>T

1 paper

NM_004655.4

p.H757Q

c.2271C>G

1 paper

NM_004655.4

p.H757Q

c.2271C>A