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.E108G

c.323A>G

Surrounding Variants

1 paper

NM_001388492.1

p.E108insFs

c.322_323insGT

1 paper

NM_001388492.1

p.N109_I110insCGC

c.325_329ins9

1 paper

NM_001388492.1

p.E108_I110del3

c.322_329del9

2 papers

NM_001388492.1

p.C107_E108ins6

c.319_323ins18

1 paper

NM_001388492.1

p.I110_V111insGC

c.328_332ins6

1 paper

NM_001388492.1

p.I110_V111insGCA

c.328_332ins9

1 paper

NM_001388492.1

p.I110L

c.328A>T

1 paper

NM_001388492.1

p.I110T

c.329T>C

3 papers

NM_001388492.1

p.T105T

c.315A>T

1 paper

NM_001388492.1

p.T105_I106ins6

c.313_317ins18

1 paper

NM_001388492.1

p.V111V

c.333G>C

1 paper

NM_001388492.1

p.T105_I110del6

c.313_329del18