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.T105_I110del6

c.313_329del18

Surrounding Variants

1 paper

NM_001388492.1

p.T105_I106ins6

c.313_317ins18

3 papers

NM_001388492.1

p.T105T

c.315A>T

3 papers

NM_001388492.1

p.C103Y

c.308G>A

1 paper

NM_002111.8

p.C105S

c.314G>C

1 paper

NM_002111.8

p.C105S

c.313T>A

1 paper

NM_001388492.1

p.H102Q

c.306T>A

1 paper

NM_001388492.1

p.H102R

c.305A>G

2 papers

NM_001388492.1

p.C107_E108ins6

c.319_323ins18

3 papers

NM_001388492.1

p.H102_C103insCAA

c.304_308ins9

1 paper

NM_001388492.1

p.E108_I110del3

c.322_329del9

1 paper

NM_001388492.1

p.E108insFs

c.322_323insGT

1 paper

NM_001388492.1

p.E108G

c.323A>G