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

2 papers

NM_000038.6

p.S1042N

c.3125G>A

Surrounding Variants

1 paper

NM_000038.6

p.S1042T

c.3125G>C

1 paper

NM_000038.6

p.P1043_S1044delFs

c.3127_3130del4

1 paper

NM_000038.6

p.S1042_S1044delFs

c.3126_3130del5

1 paper

NM_000038.6

p.S1042G

c.3124A>G

1 paper

NM_000038.6

p.S1042fs

c.3124_3125fs

3 papers

NM_000038.6

p.S1042_P1043insFs

c.3126_3127ins8

1 paper

NM_000038.6

p.Q1041Q

c.3123A>G

1 paper

NM_000038.6

p.P1043S

c.3127C>T

1 paper

NM_000038.6

p.Q1041L

c.3122A>T

1 paper

NM_000038.6

p.P1043L

c.3128C>T

8 papers

NM_000038.6

p.Q1041*

c.3121C>T

1 paper

NM_000038.6

p.S1042delFs

c.3124delA