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.G229W

c.685G>T

Surrounding Variants

1 paper

NM_003502.4

p.S228L

c.683C>T

1 paper

NM_003502.4

p.G231A

c.692G>C

3 papers

NM_003502.4

p.S226F

c.677C>T

3 papers

NM_003502.4

p.S226C

c.677C>G

1 paper

NM_003502.4

p.K232N

c.696G>T

1 paper

NM_003502.4

p.K232N

c.696G>C

1 paper

NM_003502.4

p.S225fs

c.673_674fs

1 paper

NM_003502.4

p.Q224H

c.672G>T

1 paper

NM_003502.4

p.Q224H

c.672G>C

5 papers

NM_003502.4

p.G233D

c.698G>A

1 paper

NM_003502.4

p.I234fs

c.700_701fs

1 paper

NM_003502.4

p.G236*

c.706G>T