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.S1202C

c.3605C>G

Surrounding Variants

2 papers

NM_000038.6

p.S1202P

c.3604T>C

2 papers

NM_000038.6

p.S1202S

c.3606T>C

5 papers

NM_000038.6

p.G1203*

c.3607G>T

9 papers

NM_000038.6

p.S1201*

c.3602C>A

9 papers

NM_000038.6

p.S1201*

c.3602C>G

1 paper

NM_000038.6

p.G1203V

c.3608G>T

2 papers

NM_000038.6

p.G1203G

c.3609A>C

1 paper

NM_000038.6

p.S1201P

c.3601T>C

5 papers

NM_000038.6

p.Q1204*

c.3610C>T

5 papers

NM_000038.6

p.S1205delFs

c.3613delA

1 paper

NM_000038.6

p.S1200N

c.3599G>A

1 paper

NM_000038.6

p.S1200fs

c.3598_3599fs