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.P134R

c.401C>G

Surrounding Variants

1 paper

NM_001377265.1

p.L136F

c.406C>T

1 paper

NM_001377265.1

p.G137delFs

c.411delG

1 paper

NM_001377265.1

p.G137R

c.409G>A

2 papers

NM_001377265.1

p.G137R

c.409G>C

1 paper

NM_001377265.1

p.G137V

c.410G>T

1 paper

NM_001377265.1

p.V131I

c.391G>A

1 paper

NM_001377265.1

p.E138K

c.412G>A

2 papers

NM_001377265.1

p.E138Q

c.412G>C

1 paper

NM_001377265.1

p.E138*

c.412G>T

2 papers

NM_001377265.1

p.G130R

c.388G>A

2 papers

NM_001377265.1

p.G130R

c.388G>C

2 papers

NM_001377265.1

p.K139*

c.415A>T