Varaico: Literature-Extracted Genetic Variants

PALS1

75 papers

RefSeq Summary

This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells...

Pfam Domains

L27_Naa 123–170UCSCL27_N

L27aa 186–233UCSCL27 domain

PDZaa 256–333UCSCPDZ domain

SH3_2aa 349–414UCSCVariant SH3 domain

Guanylate_kinaa 478–662UCSCGuanylate kinase

Gene Aliases

HGNC Name

protein associated with LIN7 1, MAGUK p55 family member

HGNC Previous Symbol

MPP5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_022474.4

p.S141Y

c.422C>A

Surrounding Variants

2 papers

NM_022474.4

p.V154G

c.461T>G

1 paper

NM_022474.4

p.Q160K

c.478C>A

2 papers

NM_022474.4

p.H166_I169del0

c.498_506del9

1 paper

NM_022474.4

p.A176T

c.526G>A

1 paper

NM_022474.4

p.S177N

c.530G>A

1 paper

NM_022474.4

p.P178R

c.533C>G

1 paper

NM_022474.4

p.A186E

c.557C>A

1 paper

NM_022474.4

p.E123Splc

c.368-6051C>T

2 papers

NM_022474.4

p.G205_E207delFs

c.613_619del7

1 paper

NM_022474.4

p.H216N

c.646C>A

1 paper

NM_022474.4

p.D225N

c.673G>A

1 paper

NM_022474.4

p.E229E

c.687G>A