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.T329delFs

c.985_986delAC

Surrounding Variants

2 papers

NM_001377265.1

p.A328T

c.982G>A

2 papers

NM_001377265.1

p.A328P

c.982G>C

1 paper

NM_001377265.1

p.A328_T329del1

c.984_986delCAC

1 paper

NM_001377265.1

p.T329insFs

c.985_986insAC

2 papers

NM_001377265.1

p.T329S

c.985A>T

2 papers

NM_001377265.1

p.T329S

c.986C>G

1 paper

NM_001377265.1

p.R326K

c.977G>A

1 paper

NM_001377265.1

p.S330N

c.989G>A

1 paper

NM_001377265.1

p.I331V

c.991A>G

1 paper

NM_001123066.4

p.A250A

c.750C>A

1 paper

NM_001377265.1

p.I331N

c.992T>A

1 paper

NM_001377265.1

p.I331_P335Fs

c.993_1004delinsTGCCTACTFs