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

6 papers

NM_001377265.1

p.L98L

c.294G>A

Surrounding Variants

1 paper

NM_001377265.1

p.L98S

c.293T>C

1 paper

NM_001377265.1

p.L98M

c.292T>A

1 paper

NM_001377265.1

p.E97delFs

c.291delG

1 paper

NM_001377265.1

p.V100I

c.298G>A

1 paper

NM_001377265.1

p.E97fs

c.289_290fs

1 paper

NM_001377265.1

p.E96E

c.288G>A

1 paper

NM_001377265.1

p.E96Splc

c.287-1G>T

1 paper

NM_001377265.1

p.E96Splc

c.287-2A>G

1 paper

NM_001377265.1

p.G102R

c.304G>C

2 papers

NM_001377265.1

p.R103W

c.307C>T

3 papers

NM_001377265.1

p.R103Q

c.308G>A

2 papers

NM_001377265.1

p.R103R

c.309G>A