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

2 papers

NM_004655.4

p.K792_E793insC

c.2374_2378ins3

Surrounding Variants

1 paper

NM_004655.4

p.Q794fs

c.2380_2381fs

1 paper

NM_004655.4

p.Q794*

c.2380C>T

1 paper

NM_004655.4

p.H790Y

c.2368C>T

1 paper

NM_004655.4

p.S796R

c.2386A>C

1 paper

NM_004655.4

p.S796R

c.2388C>G

1 paper

NM_004655.4

p.S796R

c.2388C>A

1 paper

NM_004655.4

p.K797E

c.2389A>G

1 paper

NM_004655.4

p.E793_S796delFs

c.2379_2388del10

1 paper

NM_004655.4

p.L786F

c.2358G>T

1 paper

NM_004655.4

p.L786F

c.2358G>C

1 paper

NM_004655.4

p.K798insFs

c.2393_2394insT

1 paper

NM_004655.4

p.K798fs

c.2392_2393fs