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.V344G

c.1031T>G

Surrounding Variants

2 papers

NM_001377265.1

p.P343A

c.1027C>G

1 paper

NM_001377265.1

p.P343_V344delFs

c.1027_1031del5

1 paper

NM_001377265.1

p.L342H

c.1025T>A

2 papers

NM_001123066.4

p.F271C

c.812T>G

NM_001377265.1

p.F346C

c.1037T>G

1 paper

NM_001377265.1

p.L342F

c.1024C>T

1 paper

NM_016835.5

p.P266A

c.796C>G

1 paper

NM_001377265.1

p.P341S

c.1021C>T

1 paper

NM_001377265.1

p.S348T

c.1042T>A

2 papers

NM_001377265.1

p.S348P

c.1042T>C

1 paper

NM_001377265.1

p.V350insFs

c.1048_1049insG

1 paper

NM_001377265.1

p.A339T

c.1015G>A

1 paper

NM_001377265.1

p.A339S

c.1015G>T