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.G179G

c.537G>A

Surrounding Variants

1 paper

NM_001377265.1

p.G179G

c.537G>C

1 paper

NM_001377265.1

p.D180N

c.538G>A

2 papers

NM_001377265.1

p.G179R

c.535G>A

3 papers

NM_001377265.1

p.G179R

c.535G>C

1 paper

NM_001377265.1

p.G178S

c.532G>A

1 paper

NM_001377265.1

p.K177R

c.530A>G

8 papers

NM_001377265.1

p.K177I

c.530A>T

1 paper

NM_001377265.1

p.K177_D180delFs

c.531_540del10

1 paper

NM_001377265.1

p.A182insFs

c.545_546insA

1 paper

NM_001377265.1

p.Q176P

c.527A>C

2 papers

NM_001377265.1

p.E183K

c.547G>A

1 paper

NM_001377265.1

p.Q176*

c.526C>T