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

1–12 of 741 variants

30 papers

NM_001388492.1

p.P301L

c.902C>T

21 papers

NM_001388492.1

p.Q18L

c.53A>T

20 papers

NM_001388492.1

p.A480T

c.1438G>A

17 papers

NM_001388492.1

p.P301S

c.901C>T

13 papers

NM_001388492.1

p.Q31Q

c.93G>A

10 papers

NM_001388492.1

p.E2642del1

c.7924_7925delGAG

9 papers

NM_001388492.1

p.Q36_Q37del1

c.108_110delGCA

7 papers

NM_001388492.1

p.I2998S

c.8993T>G

6 papers

NM_001388492.1

p.T3A

c.7A>G

6 papers

NM_001388492.1

p.Q38P

c.113A>C

6 papers

NM_001388492.1

p.P40_P41ins3

c.120_121ins9

6 papers

NM_001388492.1

p.G773G

c.2319G>A