Varaico: Literature-Extracted Genetic Variants

Gene:PARD6A
Variant:p.F39L

PARD6A

19 papers

RefSeq Summary

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

Pfam Domains

PB1aa 15–95UCSCPB1 domain
PDZaa 157–247UCSCPDZ domain

Gene Aliases

HGNC Name

par-6 family cell polarity regulator alpha

HGNC Alias Symbols

PAR-6; PAR-6A; TAX40; PAR6alpha; TIP-40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037281.2
p.F39L
c.115T>C
Surrounding Variants
1 paper
NM_001037281.2
p.F39L
c.117C>A
1 paper
NM_001037281.2
p.F39L
c.117C>G
1 paper
NM_001037281.2
p.S35_V36del1
c.105_107delGGT
1 paper
NM_001037281.2
p.S35_V36del2
c.103_107del6
1 paper
NM_001037281.2
p.A80V
c.239C>T
1 paper
NM_001037281.2
p.S83G
c.247A>G
1 paper
NM_001037281.2
p.P86L
c.257C>T
1 paper
NM_001037281.2
p.A105_N107del3
c.313_320del9
1 paper
NM_001037281.2
p.P12delFs
c.35_36delCC
1 paper
NM_001037281.2
p.A2V
c.5C>T
1 paper
NM_001037281.2
p.N253N
c.759C>T
1 paper
NM_016948.3
p.G261E
c.782G>A
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