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

38 papers

NM_005910.6

p.P301L

c.902C>T

NM_016835.5

p.P618L

c.1853C>T

NM_001123066.4

p.P636L

c.1907C>T

NM_001377265.1

p.P693L

c.2078C>T

Surrounding Variants

4 papers

NM_005910.6

p.P301T

c.901C>A

15 papers

NM_005910.6

p.P301S

c.901C>T

NM_001123066.4

p.P636S

c.1906C>T

NM_001377265.1

p.P693S

c.2077C>T

1 paper

NM_001377265.1

p.V692A

c.2075T>C

2 papers

NM_005910.6

p.V300I

c.898G>A

1 paper

NM_001377265.1

p.G695S

c.2083G>A

1 paper

NM_005910.6

p.G303delFs

c.908_909delGC

4 papers

NM_005910.6

p.G303V

c.908G>T

NM_001377265.1

p.G695V

c.2084G>T

1 paper

NM_016835.5

p.K615N

c.1845A>C

1 paper

NM_016835.5

p.K615N

c.1845A>T

4 papers

NM_001123066.4

p.G639S

c.1915G>A

NM_005910.6

p.G304S

c.910G>A

1 paper

NM_005910.6

p.H299ins1

c.896_897insACA

2 papers

NM_005910.6

p.K298E

c.892A>G