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.E747E

c.2241A>G

Surrounding Variants

1 paper

NM_001388492.1

p.E747K

c.2239G>A

1 paper

NM_001388492.1

p.L754S

c.2261T>C

1 paper

NM_001388492.1

p.I757T

c.2270T>C

2 papers

NM_001388492.1

p.D758N

c.2272G>A

1 paper

NM_001388492.1

p.A767delFs

c.2299delG

6 papers

NM_001388492.1

p.G773G

c.2319G>A

1 paper

NM_001388492.1

p.S781delFs

c.2341delA

1 paper

NM_001388492.1

p.R784C

c.2350C>T

2 papers

NM_001388492.1

p.R784H

c.2351G>A

1 paper

NM_001388492.1

p.V787M

c.2359G>A

1 paper

NM_001388492.1

p.D789N

c.2365G>A

1 paper

NM_001388492.1

p.G799Splc

c.2395+5C>T