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.C291R

c.871T>C

Surrounding Variants

1 paper

NM_005910.6

p.C291S

c.871T>A

1 paper

NM_005910.6

p.C291S

c.872G>C

1 paper

NM_001377265.1

p.G684R

c.2050G>C

1 paper

NM_001377265.1

p.G684C

c.2050G>T

1 paper

NM_016835.5

p.S606Y

c.1817C>A

1 paper

NM_001377265.1

p.K686R

c.2057A>G

1 paper

NM_001377265.1

p.K686M

c.2057A>T

1 paper

NM_001123066.4

p.Q623_S624delFs

c.1867_1870del4

1 paper

NM_001377265.1

p.Q680delFs

c.2038delC

2 papers

NM_005910.6

p.N296del1

c.886_887delAAT

1 paper

NM_001377265.1

p.D687G

c.2060A>G

1 paper

NM_001123066.4

p.N621N

c.1863C>T