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

4 papers

NM_001388492.1

p.Q34delins

c.102delinsGCAA

Surrounding Variants

1 paper

NM_001388492.1

p.Q34P

c.101A>C

1 paper

NM_001388492.1

p.Q34delFs

c.102delG

1 paper

NM_001388492.1

p.Q34_Q35delFs

c.102_105del4

1 paper

NM_001388492.1

p.Q35*

c.103C>T

1 paper

NM_001388492.1

p.Q35delFs

c.104_105delAG

1 paper

NM_001388492.1

p.Q35P

c.104A>C

1 paper

NM_001388492.1

p.Q34fs

c.100_101fs

1 paper

NM_001388492.1

p.Q33Q

c.99G>A

1 paper

NM_001388492.1

p.Q35Q

c.105G>A

1 paper

NM_001388492.1

p.Q35_Q36ins2

c.105_106ins6

1 paper

NM_001388492.1

p.Q37_Q38del2

c.109_113del6

1 paper

NM_001388492.1

p.Q33_Q34delFs

c.99_100delGC