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

2 papers

NM_001129.5

p.V708delFs

c.2123_2124delTG

Surrounding Variants

1 paper

NM_001129.5

p.S707_V708del1

c.2120_2122delCTG

1 paper

NM_001129.5

p.S707_V708del2

c.2119_2123del6

1 paper

NM_001129.5

p.V708fs

c.2122_2123fs

1 paper

NM_001129.5

p.T692A

c.2074A>G

2 papers

NM_001129.5

p.R732S

c.2194C>A

1 paper

NM_001129.5

p.E682K

c.2044G>A

1 paper

NM_001129.5

p.L668P

c.2003T>C

1 paper

NM_001129.5

p.S667T

c.1999T>A

1 paper

NM_001129.5

p.P666L

c.1997C>T

1 paper

NM_001129.5

p.P666_S667insR

c.1996_2000ins3

1 paper

NM_001129.5

p.L664V

c.1990C>G

1 paper

NM_001129.5

p.R654C

c.1960C>T