Varaico: Literature-Extracted Genetic Variants

SETD2

1,941 papers

RefSeq Summary

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a ...

Pfam Domains

AWSaa 1467–1503UCSCAWS domain

SETaa 1517–1623UCSCSET domain

WWaa 2347–2376UCSCWW domain

SRIaa 2431–2513UCSCSRI (Set2 Rpb1 interacting) domain

Gene Aliases

HGNC Name

SET domain containing 2, histone lysine methyltransferase

HGNC Alias Symbols

HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014159.7

p.P6S

c.16C>T

Surrounding Variants

1 paper

NM_014159.7

p.P6fs

c.16_17fs

1 paper

NM_014159.7

p.P6fs

c.16_17fs

17 papers

NM_014159.7

p.Q7*

c.19C>T

1 paper

NM_014159.7

p.Q5ins4

c.13_14ins12

1 paper

NM_014159.7

p.Q7K

c.19C>A

8 papers

NM_014159.7

p.L4L

c.12G>C

2 papers

NM_014159.7

p.L4L

c.12G>A

1 paper

NM_014159.7

p.Q7L

c.20A>T

1 paper

NM_014159.7

p.Q7P

c.20A>C

1 paper

NM_014159.7

p.P8S

c.22C>T

1 paper

NM_014159.7

p.L4L

c.10C>T

1 paper

NM_014159.7

p.P8T

c.22C>A