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

1–12 of 66 variants

4 papers

NM_022474.4

p.S141Y

c.422C>A

3 papers

NM_022474.4

p.H325P

c.974A>C

3 papers

NM_022474.4

p.R519*

c.1555C>T

2 papers

NM_022474.4

p.H5insFs

c.14dupA

2 papers

NM_022474.4

p.Q61L

c.182A>T

2 papers

NM_022474.4

p.D80A

c.239A>C

2 papers

NM_022474.4

p.E123Splc

c.367+1G>T

2 papers

NM_022474.4

p.V154G

c.461T>G

2 papers

NM_022474.4

p.H166_I169del0

c.498_506del9

2 papers

NM_022474.4

p.G205_E207delFs

c.613_619del7

2 papers

NM_022474.4

p.E430G

c.1289A>G

2 papers

NM_022474.4

p.R498_R506del9

c.1492_1517del27