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.P161L

c.482C>T

Surrounding Variants

3 papers

NM_001377265.1

p.P161S

c.481C>T

1 paper

NM_001377265.1

p.A160A

c.480G>A

1 paper

NM_001377265.1

p.A160V

c.479C>T

1 paper

NM_001377265.1

p.A160_P161insG

c.478_482ins3

2 papers

NM_001377265.1

p.P159S

c.475C>T

1 paper

NM_001377265.1

p.T164A

c.490A>G

2 papers

NM_001377265.1

p.C158Y

c.473G>A

1 paper

NM_001377265.1

p.C158R

c.472T>C

5 papers

NM_001377265.1

p.G165G

c.495A>T

1 paper

NM_001377265.1

p.G166S

c.496G>A

1 paper

NM_001377265.1

p.V157_P162insFs

c.469_484dup16

1 paper

NM_001377265.1

p.P156R

c.467C>G