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.S13Y

c.38C>A

Surrounding Variants

1 paper

NM_001388492.1

p.E12E

c.36G>A

1 paper

NM_001388492.1

p.E12D

c.36G>C

1 paper

NM_001388492.1

p.E12D

c.36G>T

2 papers

NM_001388492.1

p.E12A

c.35A>C

1 paper

NM_001388492.1

p.E12G

c.35A>G

1 paper

NM_001388492.1

p.L14R

c.41T>G

1 paper

NM_001388492.1

p.E12K

c.34G>A

1 paper

NM_001388492.1

p.K15E

c.43A>G

2 papers

NM_001388492.1

p.F11L

c.33C>A

1 paper

NM_001388492.1

p.F11L

c.33C>G

2 papers

NM_001388492.1

p.K15R

c.44A>G

2 papers

NM_001388492.1

p.F11L

c.31T>C