Varaico: Literature-Extracted Genetic Variants

NUP153

113 papers

RefSeq Summary

Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleop...

Pfam Domains

Nup153aa 113–621UCSCNucleoporin Nup153-like

Zn_ribbon_RanBPaa 657–687UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 722–751UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 793–822UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 851–880UCSCZn-finger in Ran binding protein and others

Nup_retrotrp_bdaa 1385–1475UCSCRetro-transposon transporting motif

Gene Aliases

HGNC Name

nucleoporin 153

HGNC Alias Symbol

HNUP153

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005124.4

p.I248V

c.742A>G

Surrounding Variants

1 paper

NM_005124.4

p.S247L

c.740C>T

1 paper

NM_005124.4

p.P241H

c.722C>A

1 paper

NM_005124.4

p.K227I

c.680A>T

1 paper

NM_005124.4

p.S143F

c.428C>T

1 paper

NM_005124.4

p.V125M

c.373G>A

1 paper

NM_005124.4

p.S306*

c.917C>A

1 paper

NM_005124.4

p.Q313L

c.938A>T

1 paper

NM_005124.4

p.S338_P339Splc

c.1014+3A>G

1 paper

NM_005124.4

p.D349V

c.1046A>T

1 paper

NM_005124.4

p.K353R

c.1058A>G

1 paper

NM_005124.4

p.Q360_Y361delFs

c.1079_1083del5

1 paper

NM_005124.4

p.R366I

c.1097G>T