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.Q23P

c.68A>C

Surrounding Variants

2 papers

NM_001388492.1

p.Q23*

c.67C>T

1 paper

NM_001388492.1

p.Q22Q

c.66G>A

1 paper

NM_001388492.1

p.Q22H

c.66G>C

1 paper

NM_001388492.1

p.Q25*

c.73C>T

1 paper

NM_001388492.1

p.Q20L

c.59A>T

21 papers

NM_001388492.1

p.Q18L

c.53A>T

1 paper

NM_001388492.1

p.Q28_Q34delFs

c.84_102del19

1 paper

NM_001388492.1

p.Q18ins6

c.52_53ins18

1 paper

NM_001388492.1

p.Q29delFs

c.85delC

1 paper

NM_001388492.1

p.F17L

c.51C>A

2 papers

NM_001388492.1

p.F17_Q18ins1

c.51_52insCAG

3 papers

NM_001388492.1

p.Q35_Q37ins1

c.105_110dup6