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.E123Splc

c.367+1G>T

Surrounding Variants

1 paper

NM_022474.4

p.G98A

c.293G>C

1 paper

NM_022474.4

p.T97T

c.291C>T

2 papers

NM_022474.4

p.D80A

c.239A>C

2 papers

NM_022474.4

p.Q61L

c.182A>T

1 paper

NM_022474.4

p.R60W

c.178C>T

1 paper

NM_022474.4

p.A54del1

c.160_161delGCA

1 paper

NM_022474.4

p.R52*

c.154C>T

1 paper

NM_022474.4

p.R51H

c.152G>A

1 paper

NM_022474.4

p.P40A

c.118C>G

1 paper

NM_022474.4

p.D38E

c.114C>A

1 paper

NM_022474.4

p.D38E

c.114C>G

1 paper

NM_022474.4

p.D38A

c.113A>C