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.E2639_E2641del0

c.7917_7922del6

Surrounding Variants

2 papers

NM_001388492.1

p.E2639_E2640del1

c.7917_7919delAGA

11 papers

NM_002111.8

p.E2645_A2646del1

c.7934_7936delAGG

NM_001388492.1

p.E2645del1

c.7933_7934delGAG

1 paper

NM_001388492.1

p.E2643_A2644del2

c.7927_7931del6

4 papers

NM_001388492.1

p.T2654M

c.7961C>T

1 paper

NM_001388492.1

p.P2656R

c.7967C>G

1 paper

NM_001388492.1

p.V2666I

c.7996G>A

1 paper

NM_001388492.1

p.T2712T

c.8136C>A

1 paper

NM_001388492.1

p.E2713D

c.8139G>C

1 paper

NM_001388492.1

p.E2713D

c.8139G>T

2 papers

NM_002111.8

p.F2719L

c.8155T>C

2 papers

NM_002111.8

p.F2719Y

c.8156T>A

2 papers

NM_002111.8

p.F2719L

c.8157T>A