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.D11N

c.31G>A

Surrounding Variants

1 paper

NM_003502.4

p.D11fs

c.31_32fs

1 paper

NM_003502.4

p.L10F

c.30G>T

1 paper

NM_003502.4

p.L10F

c.30G>C

1 paper

NM_003502.4

p.P9insFs

c.27dupC

1 paper

NM_003502.4

p.A14G

c.41C>G

1 paper

NM_003502.4

p.Q6L

c.17A>T

1 paper

NM_003502.4

p.Q6fs

c.16_17fs

3 papers

NM_003502.4

p.Q6*

c.16C>T

1 paper

NM_003502.4

p.E5D

c.15G>T

1 paper

NM_003502.4

p.E5D

c.15G>C

1 paper

NM_003502.4

p.E5Q

c.13G>C

1 paper

NM_003502.4

p.E5fs

c.13_14fs