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

15 papers

NM_004655.4

p.S738F

c.2213C>T

Surrounding Variants

1 paper

NM_004655.4

p.N739S

c.2216A>G

1 paper

NM_004655.4

p.S741N

c.2222G>A

1 paper

NM_004655.4

p.L742fs

c.2224_2225fs

1 paper

NM_004655.4

p.A734V

c.2201C>T

1 paper

NM_004655.4

p.A743V

c.2228C>T

2 papers

NM_004655.4

p.T732M

c.2195C>T

1 paper

NM_004655.4

p.A728_Q731delFs

c.2184_2193del10

1 paper

NM_004655.4

p.D746Splc

c.2237+1G>C

5 papers

NM_004655.4

p.D746Splc

c.2237+3G>A

1 paper

NM_004655.4

p.A728delFs

c.2184delG

1 paper

NM_004655.4

p.A728T

c.2182G>A

2 papers

NM_004655.4

p.S727L

c.2180C>T