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.F8insFs

c.23dupT

Surrounding Variants

2 papers

NM_001377265.1

p.E7E

c.21G>A

1 paper

NM_001377265.1

p.E7A

c.20A>C

1 paper

NM_001377265.1

p.E7G

c.20A>G

1 paper

NM_001377265.1

p.E7V

c.20A>T

1 paper

NM_001377265.1

p.F8L

c.22T>C

2 papers

NM_001377265.1

p.E7K

c.19G>A

1 paper

NM_001377265.1

p.F8Y

c.23T>A

2 papers

NM_001377265.1

p.F8S

c.23T>C

1 paper

NM_001377265.1

p.F8L

c.24C>A

1 paper

NM_001377265.1

p.F8F

c.24C>T

1 paper

NM_001377265.1

p.E9*

c.25G>T

13 papers

NM_001377265.1

p.Q6*

c.16C>T