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.V111V

c.333G>C

Surrounding Variants

1 paper

NM_001388492.1

p.Q113_S114ins6

c.337_341ins18

1 paper

NM_001388492.1

p.Q113_S114ins9

c.337_341ins27

1 paper

NM_001388492.1

p.Q113_S114ins12

c.337_341ins36

1 paper

NM_001388492.1

p.I110T

c.329T>C

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.N109_I110insCGC

c.325_329ins9

1 paper

NM_001388492.1

p.E108G

c.323A>G

1 paper

NM_001388492.1

p.V115I

c.343G>A

1 paper

NM_001388492.1

p.V115_R116ins6

c.343_347ins18

1 paper

NM_001388492.1

p.V115_R116ins9

c.343_347ins27