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

6 papers

NM_001388492.1

p.Q38P

c.113A>C

Surrounding Variants

1 paper

NM_001388492.1

p.Q38ins4

c.113_114ins12

1 paper

NM_001388492.1

p.Q38ins2

c.113_114ins6

1 paper

NM_001388492.1

p.Q38ins3

c.113_114ins9

1 paper

NM_001388492.1

p.P39ins5

c.115_116ins15

1 paper

NM_001388492.1

p.P39ins3

c.115_116ins9

1 paper

NM_001388492.1

p.P39ins5

c.115_116ins15

1 paper

NM_001388492.1

p.P39ins6

c.115_116ins18

1 paper

NM_001388492.1

p.P39ins7

c.115_116ins21

1 paper

NM_001388492.1

p.P39ins9

c.115_116ins27

1 paper

NM_001388492.1

p.P39ins2

c.115_116ins6

1 paper

NM_001388492.1

p.P39ins3

c.115_116ins9

1 paper

NM_001388492.1

p.P39ins4

c.115_116ins12