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.T1573N

c.4718C>A

Surrounding Variants

1 paper

NM_005883.3

p.S1578A

c.4732T>G

1 paper

NM_005883.3

p.T1564A

c.4690A>G

1 paper

NM_005883.3

p.A1583T

c.4747G>A

2 papers

NM_005883.3

p.R1563W

c.4687C>T

1 paper

NM_005883.3

p.P1556insFs

c.4666_4667insA

1 paper

NM_005883.3

p.G1544C

c.4630G>T

1 paper

NM_005883.3

p.A1625T

c.4873G>A

1 paper

NM_005883.3

p.R1631Q

c.4892G>A

1 paper

NM_005883.3

p.P1643A

c.4927C>G

1 paper

NM_005883.3

p.G1646D

c.4937G>A

1 paper

NM_005883.3

p.R1653Q

c.4958G>A

1 paper

NM_005883.3

p.L1493F

c.4477C>T