Varaico: Literature-Extracted Genetic Variants

AXIN1

546 papers

RefSeq Summary

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polypos...

Pfam Domains

AXIN1_TNKS_BDaa 7–82UCSCAxin-1 tankyrase binding domain

RGSaa 88–210UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 465–496UCSCAxin beta-catenin binding motif

DIXaa 782–858UCSCDIX domain

Gene Aliases

HGNC Name

axin 1

HGNC Alias Symbol

PPP1R49

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003502.4

p.R604G

c.1810A>G

Surrounding Variants

1 paper

NM_003502.4

p.R604fs

c.1810_1811fs

2 papers

NM_003502.4

p.R604I

c.1811G>T

1 paper

NM_003502.4

p.R604T

c.1811G>C

1 paper

NM_003502.4

p.N605D

c.1813A>G

2 papers

NM_003502.4

p.K607*

c.1819A>T

1 paper

NM_003502.4

p.V600V

c.1800G>T

5 papers

NM_003502.4

p.V600E

c.1799T>A

1 paper

NM_003502.4

p.K607fs

c.1819_1820fs

1 paper

NM_003502.4

p.K607delFs

c.1820delT

4 papers

NM_003502.4

p.V600M

c.1798G>A

4 papers

NM_003502.4

p.A609A

c.1827T>C

1 paper

NM_003502.4

p.E610*

c.1828G>T