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_005910.6

p.N296N

c.888T>C

Surrounding Variants

2 papers

NM_005910.6

p.N296H

c.886A>C

1 paper

NM_005910.6

p.N296D

c.886A>G

1 paper

NM_005910.6

p.H299ins1

c.896_897insACA

2 papers

NM_005910.6

p.K298E

c.892A>G

1 paper

NM_001377265.1

p.D687G

c.2060A>G

2 papers

NM_005910.6

p.N296del1

c.886_887delAAT

1 paper

NM_016835.5

p.K615N

c.1845A>C

1 paper

NM_016835.5

p.K615N

c.1845A>T

1 paper

NM_001377265.1

p.K686R

c.2057A>G

1 paper

NM_001377265.1

p.K686M

c.2057A>T

2 papers

NM_005910.6

p.V300I

c.898G>A

1 paper

NM_001377265.1

p.V692A

c.2075T>C