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

1 paper

NM_001129.5

p.P666_S667insR

c.1996_2000ins3

Surrounding Variants

1 paper

NM_001129.5

p.P666L

c.1997C>T

1 paper

NM_001129.5

p.S667T

c.1999T>A

1 paper

NM_001129.5

p.L664V

c.1990C>G

1 paper

NM_001129.5

p.L668P

c.2003T>C

1 paper

NM_001129.5

p.R654C

c.1960C>T

1 paper

NM_001129.5

p.D648Y

c.1942G>T

1 paper

NM_001129.5

p.R647C

c.1939C>T

2 papers

NM_001129.5

p.R644*

c.1930C>T

5 papers

NM_001129.5

p.L642P

c.1925T>C

1 paper

NM_001129.5

p.L634L

c.1902G>C

2 papers

NM_001129.5

p.R632*

c.1894C>T

1 paper

NM_001129.5

p.E682K

c.2044G>A