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

1–12 of 176 variants

12 papers

NM_001129.5

p.P544Splc

c.1630+1G>A

9 papers

NM_001129.5

p.C581*

c.1743C>A

8 papers

NM_001129.5

p.N490delFs

c.1470delC

6 papers

NM_001129.5

p.Y306insFs

c.917dupA

5 papers

NM_001129.5

p.Y306*

c.918C>A

5 papers

NM_001129.5

p.Y306*

c.918C>G

5 papers

NM_001129.5

p.R440_Q442delFs

c.1320_1326del7

5 papers

NM_001129.5

p.L642P

c.1925T>C

5 papers

NM_001129.5

p.K1133E

c.3397A>G

4 papers

NM_001129.5

p.K121insFs

c.362dupA

4 papers

NM_001129.5

p.R440fs

c.1318_1319fs

4 papers

NM_001129.5

p.V537fs

c.1609_1610fs