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.A185V

c.554C>T

Surrounding Variants

1 paper

NM_003502.4

p.A185D

c.554C>A

1 paper

NM_003502.4

p.A185T

c.553G>A

1 paper

NM_003502.4

p.Q184*

c.550C>T

1 paper

NM_003502.4

p.D183H

c.547G>C

1 paper

NM_003502.4

p.F182L

c.546T>A

1 paper

NM_003502.4

p.E188K

c.562G>A

1 paper

NM_003502.4

p.E188V

c.563A>T

2 papers

NM_003502.4

p.M181I

c.543G>T

2 papers

NM_003502.4

p.M181I

c.543G>C

2 papers

NM_003502.4

p.M181I

c.543G>A

1 paper

NM_003502.4

p.I189fs

c.565_566fs

1 paper

NM_003502.4

p.Q190*

c.568C>T