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

3 papers

NM_001377265.1

p.H14L

c.41A>T

Surrounding Variants

1 paper

NM_001377265.1

p.H14_A15insT

c.40_44ins3

2 papers

NM_001377265.1

p.H14Y

c.40C>T

1 paper

NM_001377265.1

p.H14H

c.42C>T

1 paper

NM_001377265.1

p.A15T

c.43G>A

1 paper

NM_001377265.1

p.D13A

c.38A>C

1 paper

NM_001377265.1

p.D13G

c.38A>G

5 papers

NM_001377265.1

p.D13N

c.37G>A

2 papers

NM_001377265.1

p.D13H

c.37G>C

1 paper

NM_001377265.1

p.G16R

c.46G>C

2 papers

NM_001377265.1

p.G16W

c.46G>T

1 paper

NM_001377265.1

p.E12A

c.35A>C

2 papers

NM_001377265.1

p.G16E

c.47G>A