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.A259G

c.776C>G

Surrounding Variants

2 papers

NM_001377265.1

p.A259T

c.775G>A

3 papers

NM_001377265.1

p.P260T

c.778C>A

1 paper

NM_001377265.1

p.E261A

c.782A>C

1 paper

NM_001377265.1

p.R257C

c.769C>T

1 paper

NM_001377265.1

p.L262_L263insG

c.784_788ins3

1 paper

NM_001377265.1

p.G255_G256ins1

c.765_766insAGG

1 paper

NM_001377265.1

p.L263V

c.787C>G

1 paper

NM_001377265.1

p.G255V

c.764G>T

1 paper

NM_001377265.1

p.G255R

c.763G>C

1 paper

NM_001377265.1

p.E254*

c.760G>T

1 paper

NM_001377265.1

p.T253_E254delFs

c.759_760delAG

2 papers

NM_001377265.1

p.T253fs

c.757_758fs