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.S697_V698Splc

c.2091+2T>C

Surrounding Variants

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+2T>A

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+1G>A

6 papers

NM_001377265.1

p.S697_V698Splc

c.2091+4A>C

1 paper

NM_001123066.4

p.S640S

c.1920T>C

9 papers

NM_005910.6

p.S305N

c.914G>A

NM_001123066.4

p.S640N

c.1919G>A

NM_001377265.1

p.S697N

c.2090G>A

1 paper

NM_005910.6

p.S305T

c.914G>C

2 papers

NM_001123066.4

p.S640I

c.1919G>T

NM_005910.6

p.S305I

c.914G>T

4 papers

NM_001123066.4

p.G639S

c.1915G>A

NM_005910.6

p.G304S

c.910G>A

4 papers

NM_005910.6

p.G303V

c.908G>T

NM_001377265.1

p.G695V

c.2084G>T

4 papers

NM_001377265.1

p.S697_V698Splc

c.2091+11T>C

1 paper

NM_001377265.1

p.S697_V698Splc

c.2091+12C>A