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.A2745T

c.8233G>A

Surrounding Variants

1 paper

NM_001388492.1

p.A2749S

c.8245G>T

2 papers

NM_001388492.1

p.A2739T

c.8215G>A

1 paper

NM_001388492.1

p.R2728G

c.8182C>G

1 paper

NM_001388492.1

p.T2723M

c.8168C>T

3 papers

NM_001388492.1

p.L2719L

c.8157G>A

2 papers

NM_001388492.1

p.L2719Q

c.8156T>A

2 papers

NM_002111.8

p.F2719L

c.8157T>A

2 papers

NM_002111.8

p.F2719L

c.8157T>G

2 papers

NM_002111.8

p.F2719Y

c.8156T>A

2 papers

NM_002111.8

p.F2719L

c.8155T>C

1 paper

NM_001388492.1

p.E2713D

c.8139G>C

1 paper

NM_001388492.1

p.E2713D

c.8139G>T