Varaico: Literature-Extracted Genetic Variants

Gene:POM121L2
Variant:p.A427P

POM121L2

72 papers

Pfam Domains

POM121aa 164–311UCSCPOM121 family
POM121aa 305–365UCSCPOM121 family

Gene Aliases

HGNC Name

POM121 transmembrane nucleoporin like 2

HGNC Alias Symbol

POM121-L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033482.4
p.A427P
c.1279G>C
Surrounding Variants
1 paper
NM_033482.4
p.S429N
c.1286G>A
1 paper
NM_033482.4
p.A431T
c.1291G>A
1 paper
NM_033482.4
p.P434S
c.1300C>T
1 paper
NM_033482.4
p.R409T
c.1226G>C
1 paper
NM_033482.4
p.G364R
c.1090G>C
1 paper
NM_033482.4
p.G364R
c.1090G>A
1 paper
NM_033482.4
p.P495T
c.1483C>A
1 paper
NM_033482.4
p.P496R
c.1487C>G
2 papers
NM_033482.4
p.P499S
c.1495C>T
1 paper
NM_033482.4
p.P515Fs
c.1545delinsCAFs
1 paper
NM_033482.4
p.P336R
c.1007C>G
1 paper
NM_033482.4
p.P525T
c.1573C>A
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