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

26 papers

NM_001377265.1

p.P406S

c.1216C>T

Surrounding Variants

1 paper

NM_001377265.1

p.G407R

c.1219G>A

1 paper

NM_001377265.1

p.G407R

c.1219G>C

1 paper

NM_001123066.4

p.G329delFs

c.985_986delGG

1 paper

NM_001377265.1

p.P403A

c.1207C>G

3 papers

NM_001377265.1

p.G409E

c.1226G>A

1 paper

NM_001377265.1

p.G409V

c.1226G>T

1 paper

NM_001377265.1

p.F402_P403Fs

c.1205_1207delinsAFs

2 papers

NM_001123066.4

p.P335S

c.1003C>T

NM_001377265.1

p.P410S

c.1228C>T

1 paper

NM_001377265.1

p.E411insFs

c.1232_1233insGT

1 paper

NM_001377265.1

p.E411_A412insFs

c.1233_1234insGT

2 papers

NM_001377265.1

p.A412fs

c.1234_1235fs

2 papers

NM_001377265.1

p.A412A

c.1236C>T