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.E5K

c.13G>A

Surrounding Variants

1 paper

NM_001388492.1

p.E5_K6insG

c.13_17ins3

1 paper

NM_001388492.1

p.E5A

c.14A>C

1 paper

NM_001388492.1

p.E5G

c.14A>G

2 papers

NM_001388492.1

p.L4L

c.12G>A

1 paper

NM_001388492.1

p.L4L

c.12G>C

2 papers

NM_001388492.1

p.L4P

c.11T>C

1 paper

NM_001388492.1

p.L4R

c.11T>G

2 papers

NM_001388492.1

p.L4M

c.10C>A

3 papers

NM_001388492.1

p.K6R

c.17A>G

1 paper

NM_001388492.1

p.K6M

c.17A>T

1 paper

NM_001388492.1

p.K6delFs

c.18delG

2 papers

NM_001388492.1

p.K6_L7delFs

c.18_19delGC