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

2 papers

NM_001377265.1

p.E142K

c.424G>A

Surrounding Variants

1 paper

NM_001377265.1

p.E142A

c.425A>C

1 paper

NM_001377265.1

p.E142D

c.426A>C

2 papers

NM_001377265.1

p.A143insFs

c.428dupC

2 papers

NM_001377265.1

p.A143S

c.427G>T

1 paper

NM_001377265.1

p.A143G

c.428C>G

1 paper

NM_001377265.1

p.P141insFs

c.422_423insC

1 paper

NM_001377265.1

p.K139N

c.417A>T

2 papers

NM_001377265.1

p.K139T

c.416A>C

2 papers

NM_001377265.1

p.K139R

c.416A>G

2 papers

NM_001377265.1

p.K139*

c.415A>T

1 paper

NM_001377265.1

p.V145I

c.433G>A

1 paper

NM_001377265.1

p.P146_L147delFs

c.436_439del4