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.T496A

c.1486A>G

Surrounding Variants

1 paper

NM_001388492.1

p.H492_D493insC

c.1474_1478ins3

1 paper

NM_001388492.1

p.G491insFs

c.1471_1472insA

1 paper

NM_001388492.1

p.A490T

c.1468G>A

2 papers

NM_001388492.1

p.G488E

c.1463G>A

1 paper

NM_001388492.1

p.T504A

c.1510A>G

1 paper

NM_001388492.1

p.P487L

c.1460C>T

20 papers

NM_001388492.1

p.A480T

c.1438G>A

1 paper

NM_001388492.1

p.L512P

c.1535T>C

1 paper

NM_001388492.1

p.L478L

c.1432C>T

1 paper

NM_001388492.1

p.L517_T518insFs

c.1551_1552ins20

2 papers

NM_001388492.1

p.S519G

c.1555A>G

1 paper

NM_001388492.1

p.K471_D472insA

c.1411_1415ins3