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

2 papers

NM_022474.4

p.N501Y

c.1501A>T

Surrounding Variants

2 papers

NM_022474.4

p.R498_R506del9

c.1492_1517del27

1 paper

NM_022474.4

p.M469I

c.1407G>A

1 paper

NM_022474.4

p.M469I

c.1407G>C

1 paper

NM_022474.4

p.M469I

c.1407G>T

1 paper

NM_022474.4

p.E468K

c.1402G>A

3 papers

NM_022474.4

p.R519*

c.1555C>T

1 paper

NM_022474.4

p.H548R

c.1643A>G

1 paper

NM_022474.4

p.N453S

c.1358A>G

1 paper

NM_022474.4

p.P592Q

c.1775C>A

1 paper

NM_022474.4

p.N615Y

c.1843A>T

2 papers

NM_022474.4

p.E430G

c.1289A>G

1 paper

NM_022474.4

p.P429T

c.1285C>A