Varaico: Literature-Extracted Genetic Variants

HTT

1,424 papers

RefSeq Summary

Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide...

Pfam Domains

Htt_N-HEAT_1aa 131–283UCSCHuntingtin, N-terminal HEAT 1

Htt_bridgeaa 1785–2062UCSCHuntingtin, bridge

Htt_C-HEATaa 2092–3098UCSCHuntingtin, C-terminal HEAT

Gene Aliases

HGNC Name

huntingtin

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

30 papers

NM_001388492.1

p.P301L

c.902C>T

Surrounding Variants

17 papers

NM_001388492.1

p.P301S

c.901C>T

1 paper

NM_001388492.1

p.V302F

c.904G>T

1 paper

NM_001388492.1

p.E303del1

c.907_909delGAG

1 paper

NM_001388492.1

p.H306Y

c.916C>T

1 paper

NM_001388492.1

p.T308insFs

c.923dupC

1 paper

NM_001388492.1

p.T308A

c.922A>G

1 paper

NM_001388492.1

p.L309M

c.925C>A

1 paper

NM_001388492.1

p.G313D

c.938G>A

2 papers

NM_001388492.1

p.V314G

c.941T>G

1 paper

NM_001388492.1

p.L318Q

c.953T>A

1 paper

NM_001388492.1

p.V322insFs

c.965_966insC

1 paper

NM_001388492.1

p.L325insFs

c.973dupC