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.A192T

c.574G>A

Surrounding Variants

1 paper

NM_001377265.1

p.P191R

c.572C>G

1 paper

NM_001377265.1

p.P191A

c.571C>G

1 paper

NM_001377265.1

p.T193delins

c.577_578delinsAA

1 paper

NM_001377265.1

p.P191delFs

c.572delC

1 paper

NM_001377265.1

p.T193T

c.579C>G

2 papers

NM_001377265.1

p.P189L

c.566C>T

1 paper

NM_001377265.1

p.P189S

c.565C>T

1 paper

NM_001377265.1

p.Y196_G204del0

c.586_612del27

1 paper

NM_001377265.1

p.Y196S

c.587A>C

1 paper

NM_001377265.1

p.L197V

c.589C>G

1 paper

NM_001377265.1

p.L197F

c.589C>T

1 paper

NM_001377265.1

p.A187T

c.559G>A