Varaico: Literature-Extracted Genetic Variants

Gene:POM121
Variant:p.A6fs

POM121

74 papers

RefSeq Summary

This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The enc...

Pfam Domains

POM121aa 318–552UCSCPOM121 family
POM121aa 318–552UCSCPOM121 family

Gene Aliases

HGNC Name

POM121 transmembrane nucleoporin

HGNC Alias Symbols

KIAA0618; DKFZP586G1822; DKFZP586P2220; POM121A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387691.1
p.A6fs
c.16_17fs
Surrounding Variants
1 paper
NM_001387691.1
p.A7_A8ins9
c.19_23ins27
1 paper
NM_001387691.1
p.A7E
c.20C>A
1 paper
NM_001387691.1
p.A7G
c.20C>G
2 papers
NM_001387691.1
p.A6_G9ins1
c.17_25dup9
1 paper
NM_001387691.1
p.A18A
c.54G>A
1 paper
NM_001387691.1
p.G38A
c.113G>C
1 paper
NM_001387691.1
p.T59N
c.176C>A
1 paper
NM_001387691.1
p.H88L
c.263A>T
1 paper
NM_001387691.1
p.R169P
c.506G>C
1 paper
NM_001387691.1
p.P180_P185del0
c.540_554del15
1 paper
NM_001387691.1
p.P186T
c.556C>A
1 paper
NM_001387691.1
p.R229S
c.687A>T
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