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.K666_V667Splc

c.1999-1G>A

Surrounding Variants

1 paper

NM_001377265.1

p.V667insFs

c.1999_2000ins4

3 papers

NM_005910.6

p.K274_V275Splc

c.823-7A>T

NM_001377265.1

p.K666_V667Splc

c.1999-7A>T

1 paper

NM_001377265.1

p.Q668H

c.2004G>C

1 paper

NM_001377265.1

p.Q668H

c.2004G>T

1 paper

NM_001377265.1

p.I669L

c.2005A>T

1 paper

NM_001377265.1

p.K666_V667Splc

c.1999-10G>C

13 papers

NM_005910.6

p.K274_V275Splc

c.823-10G>T

NM_001377265.1

p.K666_V667Splc

c.1999-10G>T

NM_001123066.4

p.K609_V610Splc

c.1828-10G>T

1 paper

NM_001377265.1

p.K666_V667Splc

c.1999-11G>C

1 paper

NM_001377265.1

p.K666_V667Splc

c.1999-11G>T

1 paper

NM_001377265.1

p.I670T

c.2009T>C

1 paper

NM_005910.6

p.N279D

c.835A>G

1 paper

NM_001377265.1

p.N671S

c.2012A>G