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

5 papers

NM_001129.5

p.K1133E

c.3397A>G

Surrounding Variants

1 paper

NM_001129.5

p.K1133del1

c.3397_3398delAAA

3 papers

NM_001129.5

p.E1132_K1133del1

c.3395_3397delAGA

2 papers

NM_001129.5

p.E1132_K1133del2

c.3394_3398del6

1 paper

NM_001129.5

p.E1130fs

c.3388_3389fs

1 paper

NM_001129.5

p.E1130delFs

c.3388_3389delGA

1 paper

NM_001129.5

p.E1128Q

c.3382G>C

1 paper

NM_001129.5

p.E1132del1

c.3394_3395delGAG

1 paper

NM_001129.5

p.T1147I

c.3440C>T

1 paper

NM_001129.5

p.V1148I

c.3442G>A

1 paper

NM_001129.5

p.K1104E

c.3310A>G

1 paper

NM_001129.5

p.E1096K

c.3286G>A

2 papers

NM_001129.5

p.G1102_E1110del0

c.3305_3328del24