Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.N1070I

c.3209A>T

Surrounding Variants

1 paper

NM_000038.6

p.Q1071_E1080insFs

c.3211_3238dup28

1 paper

NM_000038.6

p.Q1071K

c.3211C>A

8 papers

NM_000038.6

p.Q1071*

c.3211C>T

3 papers

NM_000038.6

p.Q1071delFs

c.3212delA

1 paper

NM_000038.6

p.Q1071_T1073delFs

c.3213_3217del5

1 paper

NM_000038.6

p.R1069R

c.3207G>A

1 paper

NM_000038.6

p.R1069S

c.3207G>T

1 paper

NM_000038.6

p.N1070_S1072delFs

c.3210_3214del5

1 paper

NM_000038.6

p.Q1071R

c.3212A>G

2 papers

NM_000038.6

p.R1069K

c.3206G>A

1 paper

NM_000038.6

p.Q1071_S1072insFs

c.3213_3214insT

1 paper

NM_000038.6

p.Q1071H

c.3213A>C