Varaico: Literature-Extracted Genetic Variants

MAPT

2,873 papers

RefSeq Summary

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differenti...

Pfam Domains

Tubulin-bindingaa 560–591UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 592–622UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 623–653UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 654–685UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein tau

HGNC Previous Symbols

DDPAC; MAPTL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377265.1

p.S129T

c.385T>A

Surrounding Variants

7 papers

NM_001377265.1

p.S129A

c.385T>G

2 papers

NM_001377265.1

p.A128G

c.383C>G

1 paper

NM_001377265.1

p.A128V

c.383C>T

1 paper

NM_001377265.1

p.G130insFs

c.388dupG

2 papers

NM_001377265.1

p.G130R

c.388G>A

2 papers

NM_001377265.1

p.G130R

c.388G>C

1 paper

NM_001377265.1

p.V131I

c.391G>A

1 paper

NM_001377265.1

p.E127Q

c.379G>C

1 paper

NM_001377265.1

p.G126E

c.377G>A

1 paper

NM_001377265.1

p.G126A

c.377G>C

1 paper

NM_001377265.1

p.G126_S129del4

c.376_386del12

1 paper

NM_001377265.1

p.C125R

c.373T>C