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.A3070V

c.9209C>T

Surrounding Variants

1 paper

NM_001388492.1

p.A3071A

c.9213G>A

1 paper

NM_001388492.1

p.F3043F

c.9129C>T

1 paper

NM_001388492.1

p.V3019M

c.9055G>A

1 paper

NM_001388492.1

p.Q3010R

c.9029A>G

2 papers

NM_001388492.1

p.P3007S

c.9019C>T

7 papers

NM_001388492.1

p.I2998S

c.8993T>G

1 paper

NM_001388492.1

p.R2966S

c.8898G>C

1 paper

NM_001388492.1

p.R2966S

c.8898G>T

1 paper

NM_001388492.1

p.R3109H

c.9326G>A

1 paper

NM_001388492.1

p.R3128Q

c.9383G>A

1 paper

NM_002111.8

p.C3134S

c.9400T>A

1 paper

NM_002111.8

p.C3134S

c.9401G>C