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

4 papers

NM_001377265.1

p.T30A

c.88A>G

Surrounding Variants

4 papers

NM_001377265.1

p.T30_M31insFs

c.90_91ins4

3 papers

NM_001377265.1

p.T30I

c.89C>T

1 paper

NM_001377265.1

p.Y29_T30insFs

c.87_90dup4

5 papers

NM_001377265.1

p.Y29F

c.86A>T

2 papers

NM_001377265.1

p.M31L

c.91A>T

1 paper

NM_001377265.1

p.M31_H32del1

c.92_94delTGC

1 paper

NM_001377265.1

p.Y29N

c.85T>A

1 paper

NM_001377265.1

p.Y29insFs

c.85_86insG

11 papers

NM_001377265.1

p.M31I

c.93G>A

5 papers

NM_001377265.1

p.M31I

c.93G>C

2 papers

NM_001377265.1

p.G28R

c.82G>C

1 paper

NM_001377265.1

p.G28_Y29insFs

c.84_85insGC