Varaico: Literature-Extracted Genetic Variants

PALS2

32 papers

RefSeq Summary

Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transm...

Pfam Domains

L27aa 1–54UCSCL27 domain

L27aa 57–109UCSCL27 domain

PDZaa 131–206UCSCPDZ domain

SH3_2aa 219–282UCSCVariant SH3 domain

Guanylate_kinaa 337–527UCSCGuanylate kinase

Gene Aliases

HGNC Name

protein associated with LIN7 2, MAGUK p55 family member

HGNC Previous Symbol

MPP6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

3 papers

NM_001303037.2

p.K306delFs

c.917delA

2 papers

NM_001303037.2

p.R498T

c.1493G>C

1 paper

NM_001303037.2

p.M1delFs

c.2delT

1 paper

NM_001303037.2

p.Q2_Q3insFs

c.6_7ins5

1 paper

NM_001303037.2

p.Q3insFs

c.8_9ins14

1 paper

NM_001303037.2

p.T9M

c.26C>T

1 paper

NM_001303037.2

p.I20_D21ins1

c.60_61insAGC

1 paper

NM_001303037.2

p.D21N

c.61G>A

1 paper

NM_001303037.2

p.V60_N61insAGC

c.178_182ins9

1 paper

NM_001303037.2

p.V73A

c.218T>C

1 paper

NM_001303037.2

p.E75K

c.223G>A

1 paper

NM_001303037.2

p.I83V

c.247A>G