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.F402_P403Fs

c.1205_1207delinsAFs

Surrounding Variants

1 paper

NM_001377265.1

p.P403A

c.1207C>G

1 paper

NM_001123066.4

p.G329delFs

c.985_986delGG

2 papers

NM_001377265.1

p.R399G

c.1195A>G

26 papers

NM_001377265.1

p.P406S

c.1216C>T

1 paper

NM_001377265.1

p.G398R

c.1192G>A

1 paper

NM_001377265.1

p.G398R

c.1192G>C

1 paper

NM_001377265.1

p.G407R

c.1219G>A

1 paper

NM_001377265.1

p.G407R

c.1219G>C

1 paper

NM_001377265.1

p.L397S

c.1190T>C

1 paper

NM_001377265.1

p.L397L

c.1189T>C

3 papers

NM_001377265.1

p.G409E

c.1226G>A

1 paper

NM_001377265.1

p.G409V

c.1226G>T