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

3 papers

NM_001184785.2

p.P1254Fs

c.3761_3762delinsGFs

Surrounding Variants

2 papers

NM_001184785.2

p.P1254delins

c.3762delinsG

1 paper

NM_001184785.2

p.S1249R

c.3747T>G

1 paper

NM_019619.4

p.G1249S

c.3745G>A

1 paper

NM_001184785.2

p.Q1294Q

c.3882G>A

1 paper

NM_001184785.2

p.G1303G

c.3909G>A

1 paper

NM_001184785.2

p.P1324P

c.3972C>T

1 paper

NM_019619.4

p.R1329W

c.3985C>T

1 paper

NM_001184785.2

p.A1337A

c.4011G>A

1 paper

NM_001184785.2

p.R1223L

c.3668G>T

1 paper

NM_001184785.2

p.E1209K

c.3625G>A

1 paper

NM_019619.4

p.R1205L

c.3614G>T

1 paper

NM_001184785.2

p.M1200T

c.3599T>C