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

1–12 of 239 variants

15 papers

NM_001184785.2

p.R142H

c.425G>A

6 papers

NM_001184785.2

p.R496W

c.1486C>T

3 papers

NM_001184785.2

p.V5_C6insA

c.13_17ins3

3 papers

NM_001184785.2

p.N111K

c.333C>A

3 papers

NM_001184785.2

p.P170S

c.508C>T

3 papers

NM_001184785.2

p.S292T

c.875G>C

3 papers

NM_001184785.2

p.H356insFs

c.1068dupT

3 papers

NM_001184785.2

p.P1254Fs

c.3761_3762delinsGFs

2 papers

NM_001184785.2

p.K2insFs

c.5_6insA

2 papers

NM_001184785.2

p.V13A

c.38T>C

2 papers

NM_001184785.2

p.I64_D67delFs

c.191_201del11

2 papers

NM_001184785.2

p.A69fs

c.205_206fs