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.T41I

c.122C>T

Surrounding Variants

2 papers

NM_005883.3

p.T41A

c.121A>G

1 paper

NM_005883.3

p.E42delFs

c.124delG

1 paper

NM_005883.3

p.E40K

c.118G>A

2 papers

NM_005883.3

p.S37F

c.110C>T

2 papers

NM_005883.3

p.S37A

c.109T>G

1 paper

NM_005883.3

p.M46T

c.137T>C

1 paper

NM_005883.3

p.H35L

c.104A>T

1 paper

NM_005883.3

p.S33C

c.98C>G

1 paper

NM_005883.3

p.S33A

c.97T>G

1 paper

NM_005883.3

p.R26R

c.76A>C

1 paper

NM_005883.3

p.N22_S23ins3

c.66_67ins9

1 paper

NM_005883.3

p.A20D

c.59C>A