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

2 papers

NM_001377265.1

p.P373S

c.1117C>T

Surrounding Variants

1 paper

NM_001377265.1

p.P373Fs

c.1118_1119delinsGFs

1 paper

NM_001377265.1

p.A372G

c.1115C>G

3 papers

NM_001377265.1

p.A372V

c.1115C>T

1 paper

NM_001377265.1

p.A372_E375del4

c.1114_1124del12

1 paper

NM_016835.5

p.D296N

c.886G>A

1 paper

NM_016835.5

p.E300K

c.898G>A

1 paper

NM_001377265.1

p.E375D

c.1125G>C

1 paper

NM_001377265.1

p.E375D

c.1125G>T

4 papers

NM_001377265.1

p.Q370*

c.1108C>T

1 paper

NM_001377265.1

p.G369A

c.1106G>C

1 paper

NM_001377265.1

p.G369V

c.1106G>T

1 paper

NM_001377265.1

p.T377A

c.1129A>G