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

3 papers

NM_001388492.1

p.Q35_Q37ins1

c.105_110dup6

Surrounding Variants

1 paper

NM_001388492.1

p.F17L

c.51C>A

2 papers

NM_001388492.1

p.F17_Q18ins1

c.51_52insCAG

1 paper

NM_001388492.1

p.Q34_Q37ins1

c.102_110dup9

2 papers

NM_001388492.1

p.F17_Q18ins4

c.51_52ins12

2 papers

NM_001388492.1

p.F17delins

c.51delinsCCAGCAGCAGCAGCAG

1 paper

NM_001388492.1

p.F17_Q18ins6

c.51_52ins18

1 paper

NM_001388492.1

p.Q29_Q37ins3

c.87_110dup24

1 paper

NM_001388492.1

p.Q28_Q37ins3

c.84_110dup27

1 paper

NM_001388492.1

p.F17L

c.51C>G

9 papers

NM_001388492.1

p.Q36_Q37del1

c.108_110delGCA

5 papers

NM_001388492.1

p.Q35_Q37del0

c.105_110del6

1 paper

NM_001388492.1

p.Q34_Q37del0

c.102_110del9