Varaico: Literature-Extracted Genetic Variants

AEBP1

145 papers

RefSeq Summary

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation....

Pfam Domains

F5_F8_type_Caa 399–537UCSCF5/8 type C domain

Peptidase_M14aa 570–896UCSCZinc carboxypeptidase

CarboxypepD_regaa 907–982UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

AE binding protein 1

HGNC Alias Symbol

ACLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001129.5

p.K121insFs

c.362dupA

Surrounding Variants

2 papers

NM_001129.5

p.E122fs

c.364_365fs

1 paper

NM_001129.5

p.P117delFs

c.350_351delCC

1 paper

NM_001129.5

p.T128S

c.382A>T

1 paper

NM_001129.5

p.T128S

c.383C>G

1 paper

NM_001129.5

p.G112fs

c.334_335fs

1 paper

NM_001129.5

p.P142L

c.425C>T

3 papers

NM_001129.5

p.K148insFs

c.443dupA

3 papers

NM_001129.5

p.A149fs

c.445_446fs

1 paper

NM_001129.5

p.K89*

c.265A>T

1 paper

NM_001129.5

p.K154N

c.462A>C

1 paper

NM_001129.5

p.K154N

c.462A>T

1 paper

NM_001129.5

p.P158L

c.473C>T