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_001377265.1

p.E200G

c.599A>G

Surrounding Variants

1 paper

NM_001377265.1

p.E200A

c.599A>C

37 papers

NM_001377265.1

p.E200K

c.598G>A

1 paper

NM_001377265.1

p.E200D

c.600G>C

1 paper

NM_001377265.1

p.E200D

c.600G>T

3 papers

NM_001377265.1

p.P201S

c.601C>T

1 paper

NM_001377265.1

p.P201_E202insFs

c.603_604insC

1 paper

NM_001377265.1

p.E202Q

c.604G>C

1 paper

NM_001377265.1

p.E202D

c.606A>C

1 paper

NM_001377265.1

p.E202D

c.606A>T

1 paper

NM_001377265.1

p.H198N

c.592C>A

2 papers

NM_001377265.1

p.H198Y

c.592C>T

4 papers

NM_001377265.1

p.S203fs

c.607_608fs