Varaico: Literature-Extracted Genetic Variants

AGTPBP1

86 papers

RefSeq Summary

NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, ...

Pfam Domains

TPR_CCP1_Naa 16–325UCSCCCP1-like, N-terminal TPR repeats

TPR_CCP1_Naa 68–377UCSCCCP1-like, N-terminal TPR repeats

Pepdidase_M14_Naa 712–847UCSCCytosolic carboxypeptidase N-terminal domain

Peptidase_M14aa 858–1060UCSCZinc carboxypeptidase

Peptidase_M14aa 910–1103UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

ATP/GTP binding carboxypeptidase 1

HGNC Alias Symbols

KIAA1035; Nna1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001330701.2

p.R330*

c.988C>T

Surrounding Variants

1 paper

NM_001330701.2

p.L331_P332ins4

c.991_995ins12

1 paper

NM_001330701.2

p.L333P

c.998T>C

1 paper

NM_001330701.2

p.C325insFs

c.973_974ins4

1 paper

NM_001330701.2

p.T335_I336del2

c.1003_1007del6

1 paper

NM_001330701.2

p.T310A

c.928A>G

1 paper

NM_001330701.2

p.Y357insFs

c.1069_1070insAC

1 paper

NM_001330701.2

p.L359V

c.1075T>G

1 paper

NM_001330701.2

p.Q274delFs

c.820_821delTG

1 paper

NM_001330701.2

p.G271V

c.812G>T

1 paper

NM_001330701.2

p.R239insFs

c.715dupA

1 paper

NM_001330701.2

p.L227insFs

c.680dupT

1 paper

NM_001330701.2

p.D225_T226del2

c.673_677del6