Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005883.3

p.M468I

c.1404G>A

Surrounding Variants

1 paper

NM_005883.3

p.M468I

c.1404G>C

1 paper

NM_005883.3

p.M468I

c.1404G>T

1 paper

NM_005883.3

p.R464R

c.1392C>T

1 paper

NM_005883.3

p.R464C

c.1390C>T

1 paper

NM_005883.3

p.R463C

c.1387C>T

1 paper

NM_005883.3

p.A461A

c.1383G>A

1 paper

NM_005883.3

p.G476E

c.1427G>A

1 paper

NM_005883.3

p.L460L

c.1380G>A

1 paper

NM_005883.3

p.V478I

c.1432G>A

1 paper

NM_005883.3

p.L458M

c.1372C>A

2 papers

NM_005883.3

p.P457L

c.1370C>T

2 papers

NM_005883.3

p.Y448*

c.1344T>A