Varaico: Literature-Extracted Genetic Variants

Gene:PARD6B
Variant:p.L209F

PARD6B

25 papers

RefSeq Summary

This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein...

Pfam Domains

PB1aa 16–96UCSCPB1 domain
PDZaa 157–247UCSCPDZ domain

Gene Aliases

HGNC Name

par-6 family cell polarity regulator beta

HGNC Alias Symbol

PAR-6B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032521.3
p.L209F
c.627A>C
Surrounding Variants
1 paper
NM_032521.3
p.L209F
c.627A>T
1 paper
NM_032521.3
p.V223I
c.667G>A
1 paper
NM_032521.3
p.P190S
c.568C>T
1 paper
NM_032521.3
p.R240H
c.719G>A
1 paper
NM_032521.3
p.L242H
c.725T>A
1 paper
NM_032521.3
p.P248L
c.743C>T
1 paper
NM_032521.3
p.R159C
c.475C>T
1 paper
NM_032521.3
p.E153K
c.457G>A
1 paper
NM_032521.3
p.D270G
c.809A>G
1 paper
NM_032521.3
p.Y276*
c.828C>A
1 paper
NM_032521.3
p.Y276*
c.828C>G
1 paper
NM_032521.3
p.R140K
c.419G>A
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