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.S93*

c.278C>A

Surrounding Variants

1 paper

NM_001388492.1

p.S93L

c.278C>T

1 paper

NM_001388492.1

p.S93P

c.277T>C

1 paper

NM_001388492.1

p.S93_A94del2

c.277_281del6

1 paper

NM_001388492.1

p.K96_H102del7

c.286_305del21

1 paper

NM_001388492.1

p.D98del1

c.292_293delGAC

1 paper

NM_001388492.1

p.P88Splc

c.264-2A>G

1 paper

NM_001388492.1

p.R99C

c.295C>T

3 papers

NM_001388492.1

p.H102_C103insCAA

c.304_308ins9

1 paper

NM_001388492.1

p.H102R

c.305A>G

1 paper

NM_001388492.1

p.H102Q

c.306T>A

1 paper

NM_002111.8

p.C105S

c.313T>A

3 papers

NM_001388492.1

p.C103Y

c.308G>A