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.E301A

c.902A>C

Surrounding Variants

1 paper

NM_001377265.1

p.E301E

c.903G>A

1 paper

NM_001377265.1

p.D300A

c.899A>C

1 paper

NM_001377265.1

p.S302C

c.905C>G

2 papers

NM_001377265.1

p.S302F

c.905C>T

1 paper

NM_001377265.1

p.D300N

c.898G>A

1 paper

NM_001377265.1

p.S303A

c.907T>G

2 papers

NM_001377265.1

p.S303insFs

c.907_908insG

3 papers

NM_001377265.1

p.S303delFs

c.909delC

1 paper

NM_001377265.1

p.S303delFs

c.908_909delCC

1 paper

NM_001377265.1

p.S303insFs

c.908_909insG

1 paper

NM_001377265.1

p.S303C

c.908C>G

5 papers

NM_001123066.4

p.V224G

c.671T>G

NM_001377265.1

p.V299G

c.896T>G