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.R103R

c.309G>A

Surrounding Variants

1 paper

NM_001377265.1

p.Q104*

c.310C>T

3 papers

NM_001377265.1

p.R103Q

c.308G>A

2 papers

NM_001377265.1

p.R103W

c.307C>T

1 paper

NM_001377265.1

p.Q104Q

c.312G>A

1 paper

NM_001377265.1

p.Q104H

c.312G>C

1 paper

NM_001377265.1

p.Q104H

c.312G>T

2 papers

NM_001377265.1

p.R105K

c.314G>A

1 paper

NM_001377265.1

p.G102R

c.304G>C

1 paper

NM_001377265.1

p.K106insFs

c.316_317insA

3 papers

NM_001377265.1

p.A107T

c.319G>A

1 paper

NM_001377265.1

p.A107P

c.319G>C

1 paper

NM_001377265.1

p.A107G

c.320C>G