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.P41R

c.122C>G

Surrounding Variants

1 paper

NM_001388492.1

p.P41insFs

c.122_123insA

1 paper

NM_001388492.1

p.P41A

c.121C>G

1 paper

NM_001388492.1

p.P41S

c.121C>T

6 papers

NM_001388492.1

p.P40_P41ins3

c.120_121ins9

4 papers

NM_002111.8

p.P42P

c.126A>G

NM_001388492.1

p.P40P

c.120A>G

1 paper

NM_001388492.1

p.P45_P48del0

c.135_143del9

1 paper

NM_001388492.1

p.P40Q

c.119C>A

1 paper

NM_001388492.1

p.P40S

c.118C>T

1 paper

NM_001388492.1

p.P40_P41ins0

c.120_122dupACC

1 paper

NM_002111.8

p.P42_P43del1

c.126_128delACC

2 papers

NM_001388492.1

p.P39Q

c.116C>A

1 paper

NM_001388492.1

p.P39L

c.116C>T