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.H222D

c.664C>G

Surrounding Variants

1 paper

NM_001377265.1

p.H222N

c.664C>A

1 paper

NM_001377265.1

p.H222Y

c.664C>T

1 paper

NM_001377265.1

p.S221N

c.662G>A

1 paper

NM_001377265.1

p.S221T

c.662G>C

1 paper

NM_001377265.1

p.Q223K

c.667C>A

1 paper

NM_001377265.1

p.Q223*

c.667C>T

1 paper

NM_001377265.1

p.Q223R

c.668A>G

1 paper

NM_001377265.1

p.L224P

c.671T>C

3 papers

NM_001377265.1

p.L224R

c.671T>G

1 paper

NM_001377265.1

p.M225L

c.673A>C

5 papers

NM_001377265.1

p.M225L

c.673A>T

2 papers

NM_001377265.1

p.G219C

c.655G>T