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.Q681*

c.2041C>T

Surrounding Variants

1 paper

NM_004655.4

p.D682Y

c.2044G>T

1 paper

NM_004655.4

p.D682G

c.2045A>G

1 paper

NM_004655.4

p.F679_T680insAG

c.2035_2039ins6

19 papers

NM_004655.4

p.A684V

c.2051C>T

1 paper

NM_004655.4

p.A684A

c.2052G>A

1 paper

NM_004655.4

p.H677Y

c.2029C>T

7 papers

NM_004655.4

p.R671_R675del0

c.2013_2024del12

3 papers

NM_004655.4

p.R675insFs

c.2023dupC

1 paper

NM_004655.4

p.R675H

c.2024G>A

1 paper

NM_004655.4

p.R675delFs

c.2023delG

1 paper

NM_004655.4

p.R675fs

c.2023_2024fs

1 paper

NM_004655.4

p.R675G

c.2023C>G