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.Q305H

c.915A>C

Surrounding Variants

1 paper

NM_001377265.1

p.Q305H

c.915A>T

5 papers

NM_001123066.4

p.Q230R

c.689A>G

1 paper

NM_001377265.1

p.D306A

c.917A>C

1 paper

NM_001377265.1

p.P304insFs

c.911_912insTG

1 paper

NM_001377265.1

p.P304L

c.911C>T

1 paper

NM_001377265.1

p.P304insFs

c.910_911insTG

2 papers

NM_001377265.1

p.S307C

c.920C>G

3 papers

NM_001377265.1

p.P304S

c.910C>T

1 paper

NM_001377265.1

p.S303insFs

c.908_909insG

1 paper

NM_001377265.1

p.S303C

c.908C>G

1 paper

NM_001123066.4

p.P233S

c.697C>T

1 paper

NM_001377265.1

p.S303A

c.907T>G