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

2 papers

NM_001388492.1

p.Q37E

c.109C>G

Surrounding Variants

2 papers

NM_001388492.1

p.Q37fs

c.109_110fs

1 paper

NM_001388492.1

p.Q37delFs

c.110_111delAA

1 paper

NM_001388492.1

p.Q37insFs

c.110_111insGC

4 papers

NM_001388492.1

p.Q37P

c.110A>C

2 papers

NM_002111.8

p.Q39_Q40del1

c.117_119delACA

NM_001388492.1

p.Q37del1

c.109_110delCAA

3 papers

NM_001388492.1

p.Q36ins2

c.107_108ins6

1 paper

NM_001388492.1

p.Q37ins1

c.109_110insCGC

4 papers

NM_001388492.1

p.Q36P

c.107A>C

2 papers

NM_001388492.1

p.Q37Q

c.111A>G

NM_002111.8

p.Q39Q

c.117A>G

4 papers

NM_001388492.1

p.Q38del1

c.112_113delCAG

1 paper

NM_002111.8

p.Q39_P42delins

c.117_126delinsGCCG

1 paper

NM_001388492.1

p.Q38fs

c.112_113fs