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

50 papers

NM_001377265.1

p.S697_V698Splc

c.2091+16C>T

NM_001123066.4

p.S640_V641Splc

c.1920+16C>T

NM_005910.6

p.S305_V306Splc

c.915+16C>T

NM_016835.5

p.S622_V623Splc

c.1866+16C>T

Surrounding Variants

8 papers

NM_001377265.1

p.S697_V698Splc

c.2091+15A>C

NM_005910.6

p.S305_V306Splc

c.915+15A>C

10 papers

NM_001377265.1

p.S697_V698Splc

c.2091+14C>T

NM_005910.6

p.S305_V306Splc

c.915+14C>T

4 papers

NM_001377265.1

p.S697_V698Splc

c.2091+13A>G

NM_005910.6

p.S305_V306Splc

c.915+13A>G

6 papers

NM_001377265.1

p.S697_V698Splc

c.2091+19C>G

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+12C>A

4 papers

NM_001377265.1

p.S697_V698Splc

c.2091+12C>T

NM_005910.6

p.S305_V306Splc

c.915+12C>T

4 papers

NM_001377265.1

p.S697_V698Splc

c.2091+11T>C

6 papers

NM_001377265.1

p.S697_V698Splc

c.2091+4A>C

20 papers

NM_001377265.1

p.S697_V698Splc

c.2091+3G>A

NM_005910.6

p.S305_V306Splc

c.915+3G>A

NM_016835.5

p.S622_V623Splc

c.1866+3G>A

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+29G>A

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+2T>A

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+2T>C