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

1–12 of 1335 variants

104 papers

NM_001377265.1

p.R5L

c.14G>T

90 papers

NM_001377265.1

p.R5H

c.14G>A

68 papers

NM_001377265.1

p.Y18F

c.53A>T

44 papers

NM_001377265.1

p.S697_V698Splc

c.2091+16C>T

37 papers

NM_001377265.1

p.E200K

c.598G>A

35 papers

NM_001377265.1

p.P108T

c.322C>A

27 papers

NM_005910.6

p.P301L

c.902C>T

26 papers

NM_001377265.1

p.P332S

c.994C>T

26 papers

NM_001377265.1

p.P406S

c.1216C>T

18 papers

NM_001377265.1

p.S697_V698Splc

c.2091+3G>A

17 papers

NM_001377265.1

p.G37R

c.109G>C

17 papers

NM_001377265.1

p.A315T

c.943G>A