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.D317E

c.951T>A

Surrounding Variants

1 paper

NM_001377265.1

p.D317E

c.951T>G

1 paper

NM_001377265.1

p.D317A

c.950A>C

1 paper

NM_001377265.1

p.D317V

c.950A>T

2 papers

NM_001377265.1

p.Q316*

c.946C>T

2 papers

NM_001377265.1

p.R319Q

c.956G>A

2 papers

NM_001377265.1

p.R319P

c.956G>C

1 paper

NM_001377265.1

p.P320H

c.959C>A

1 paper

NM_001377265.1

p.P320L

c.959C>T

17 papers

NM_001377265.1

p.A315T

c.943G>A

1 paper

NM_001377265.1

p.A315_Q316delFs

c.945_946delCC

1 paper

NM_001377265.1

p.P321del1

c.961_963delCCC

1 paper

NM_001377265.1

p.P321S

c.961C>T