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.S416F

c.1247C>T

Surrounding Variants

1 paper

NM_001377265.1

p.S416C

c.1247C>G

1 paper

NM_001377265.1

p.P415S

c.1243C>T

1 paper

NM_001377265.1

p.G418E

c.1253G>A

1 paper

NM_001377265.1

p.G414V

c.1241G>T

1 paper

NM_001377265.1

p.R413P

c.1238G>C

2 papers

NM_001377265.1

p.A412A

c.1236C>T

1 paper

NM_001377265.1

p.D420E

c.1260C>A

1 paper

NM_001377265.1

p.D420E

c.1260C>G

1 paper

NM_001377265.1

p.T421_K422del2

c.1261_1265del6

2 papers

NM_001377265.1

p.A412fs

c.1234_1235fs

1 paper

NM_001377265.1

p.E411_A412insFs

c.1233_1234insGT

1 paper

NM_001377265.1

p.E411insFs

c.1232_1233insGT