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

1 paper

NM_001330701.2

p.I740fs

c.2218_2219fs

Surrounding Variants

1 paper

NM_001330701.2

p.I740delFs

c.2219_2220delTA

1 paper

NM_001286715.1

p.L788L

c.2362C>T

1 paper

NM_001286715.1

p.Q799*

c.2395C>T

2 papers

NM_001286715.1

p.Y784C

c.2351A>G

1 paper

NM_001286715.1

p.K781Splc

c.2342+2T>G

1 paper

NM_001330701.2

p.P699S

c.2095C>T

5 papers

NM_001330701.2

p.Y694D

c.2080T>G

1 paper

NM_001330701.2

p.D687insFs

c.2061dupT

1 paper

NM_001330701.2

p.I675_Q677del3

c.2023_2030del9