Varaico: Literature-Extracted Genetic Variants

PARD3

10p11.22-p11.21 (UCSC)OMIM PanelApp GTEx

296 papers

RefSeq Summary

This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell ...

Pfam Domains

Par3_HAL_N_termaa 1–83UCSCN-terminal of Par3 and HAL proteins

PDZaa 461–545UCSCPDZ domain

PDZaa 590–679UCSCPDZ domain

Gene Aliases

HGNC Name

par-3 family cell polarity regulator

HGNC Alias Symbols

PAR3; PARD3A; Bazooka; PPP1R118

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184785.2

p.L59R

c.176T>G

Surrounding Variants

1 paper

NM_001184785.2

p.L59L

c.175C>T

1 paper

NM_001184785.2

p.D60Y

c.178G>T

1 paper

NM_001184785.2

p.I58M

c.174A>G

1 paper

NM_001184785.2

p.L51W

c.152T>G

1 paper

NM_001184785.2

p.V68I

c.202G>A

2 papers

NM_001184785.2

p.I64_D67delFs

c.191_201del11

1 paper

NM_001184785.2

p.V68insFs

c.203_204insC

1 paper

NM_001184785.2

p.R50C

c.148C>T

2 papers

NM_001184785.2

p.A69fs

c.205_206fs

1 paper

NM_001184785.2

p.H49L

c.146A>T

1 paper

NM_001184785.2

p.H49Y

c.145C>T

1 paper

NM_001184785.2

p.V48E

c.143T>A