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.V207delFs

c.621delC

Surrounding Variants

1 paper

NM_001377265.1

p.V207I

c.619G>A

1 paper

NM_001377265.1

p.V206fs

c.616_617fs

1 paper

NM_001377265.1

p.E209K

c.625G>A

1 paper

NM_001377265.1

p.E209D

c.627A>C

1 paper

NM_001377265.1

p.E209D

c.627A>T

1 paper

NM_001377265.1

p.G210S

c.628G>A

1 paper

NM_001377265.1

p.G204_K205insFs

c.612_613insG

1 paper

NM_001377265.1

p.G204D

c.611G>A

1 paper

NM_001377265.1

p.G210V

c.629G>T

2 papers

NM_001377265.1

p.G204R

c.610G>C

1 paper

NM_001377265.1

p.S203R

c.609T>G

4 papers

NM_001377265.1

p.S203fs

c.607_608fs