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

1 paper

NM_001388492.1

p.A2T

c.4G>A

Surrounding Variants

1 paper

NM_001388492.1

p.A2S

c.4G>T

1 paper

NM_001388492.1

p.A2E

c.5C>A

2 papers

NM_001388492.1

p.A2V

c.5C>T

2 papers

NM_001388492.1

p.M1I

c.3G>A

1 paper

NM_001388492.1

p.A2A

c.6G>T

1 paper

NM_001388492.1

p.T3insFs

c.8_9insC

1 paper

NM_001388492.1

p.M1insFs

c.2_3insT

1 paper

NM_001388492.1

p.T3P

c.7A>C

6 papers

NM_001388492.1

p.T3A

c.7A>G

1 paper

NM_001388492.1

p.M1insFs

c.1dupA

2 papers

NM_001388492.1

p.L4M

c.10C>A

2 papers

NM_001388492.1

p.L4P

c.11T>C