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

3 papers

NM_022474.4

p.H325P

c.974A>C

Surrounding Variants

1 paper

NM_022474.4

p.P340L

c.1019C>T

1 paper

NM_022474.4

p.F318C

c.953T>G

1 paper

NM_022474.4

p.G311G

c.933G>A

1 paper

NM_022474.4

p.N305S

c.914A>G

1 paper

NM_022474.4

p.G293C

c.877G>T

1 paper

NM_022474.4

p.V284V

c.852A>C

1 paper

NM_022474.4

p.R282W

c.844C>T

1 paper

NM_022474.4

p.R263H

c.788G>A

1 paper

NM_022474.4

p.G251V

c.752G>T

1 paper

NM_022474.4

p.Y249H

c.745T>C

1 paper

NM_022474.4

p.R241T

c.722G>C

1 paper

NM_022474.4

p.Q233R

c.698A>G