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.I670T

c.2009T>C

Surrounding Variants

1 paper

NM_005910.6

p.N279D

c.835A>G

1 paper

NM_001377265.1

p.N671S

c.2012A>G

1 paper

NM_001377265.1

p.I669L

c.2005A>T

12 papers

NM_005910.6

p.N279K

c.837T>A

NM_016835.5

p.N596K

c.1788T>A

NM_001123066.4

p.N614K

c.1842T>A

15 papers

NM_005910.6

p.N279K

c.837T>G

NM_001377265.1

p.N671K

c.2013T>G

NM_016835.5

p.N596K

c.1788T>G

NM_001123066.4

p.N614K

c.1842T>G

2 papers

NM_005910.6

p.K281del1

c.841_842delAAG

1 paper

NM_001377265.1

p.Q668H

c.2004G>C

1 paper

NM_001377265.1

p.Q668H

c.2004G>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

1 paper

NM_005910.6

p.K280N

c.840G>T

NM_001123066.4

p.K615N

c.1845G>T

NM_016835.5

p.K597N

c.1791G>T

NM_001123067.4

p.K251N

c.753G>T

NM_016834.5

p.K222N

c.666G>T

NM_001377265.1

p.K672N

c.2016G>T

1 paper

NM_001377265.1

p.K673M

c.2018A>T

1 paper

NM_001377265.1

p.V667insFs

c.1999_2000ins4