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_005910.6

p.S285R

c.855C>G

Surrounding Variants

3 papers

NM_005910.6

p.S285R

c.855C>A

3 papers

NM_005910.6

p.S285R

c.853A>C

1 paper

NM_001123066.4

p.N621N

c.1863C>T

1 paper

NM_005910.6

p.L284H

c.851T>A

3 papers

NM_005910.6

p.L284R

c.851T>G

1 paper

NM_001377265.1

p.Q680delFs

c.2038delC

1 paper

NM_001123066.4

p.Q623_S624delFs

c.1867_1870del4

1 paper

NM_001377265.1

p.D675_L676del2

c.2023_2027del6

1 paper

NM_016835.5

p.S606Y

c.1817C>A

1 paper

NM_001377265.1

p.L674L

c.2020C>T

1 paper

NM_001377265.1

p.K673M

c.2018A>T

1 paper

NM_016835.5

p.K597N

c.1791G>C

NM_016834.5

p.K222N

c.666G>C

NM_005910.6

p.K280N

c.840G>C

NM_001123066.4

p.K615N

c.1845G>C

NM_001377265.1

p.K672N

c.2016G>C

NM_001123067.4

p.K251N

c.753G>C