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.E267D

c.801G>T

Surrounding Variants

2 papers

NM_001129.5

p.E267D

c.801G>C

1 paper

NM_001129.5

p.R268Q

c.803G>A

1 paper

NM_001129.5

p.R263ins3

c.788_789ins9

1 paper

NM_001129.5

p.P274delFs

c.821delC

1 paper

NM_001129.5

p.P273T

c.817C>A

1 paper

NM_001129.5

p.R262I

c.785G>T

1 paper

NM_001129.5

p.P274fs

c.820_821fs

1 paper

NM_001129.5

p.P274fs

c.820_821fs

1 paper

NM_001129.5

p.R251W

c.751C>T

3 papers

NM_001129.5

p.G305S

c.913G>A

6 papers

NM_001129.5

p.Y306insFs

c.917dupA

1 paper

NM_001129.5

p.E240K

c.718G>A