Varaico: Literature-Extracted Genetic Variants

ELP2

80 papers

RefSeq Summary

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded...

Pfam Domains

WD40aa 48–91UCSCWD domain, G-beta repeat

WD40aa 197–237UCSCWD domain, G-beta repeat

WD40aa 273–320UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 2

HGNC Previous Symbol

STATIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018255.4

p.L444S

c.1331T>C

Surrounding Variants

1 paper

NM_001242879.3

p.A375V

c.1124C>T

NM_018255.4

p.A445V

c.1334C>T

1 paper

NM_018255.4

p.M446T

c.1337T>C

2 papers

NM_018255.4

p.L441P

c.1322T>C

1 paper

NM_001242879.3

p.A362T

c.1084G>A

5 papers

NM_018255.4

p.R462W

c.1384C>T

NM_001242875.3

p.R527W

c.1579C>T

8 papers

NM_001242875.3

p.R527Q

c.1580G>A

NM_018255.4

p.R462Q

c.1385G>A

1 paper

NM_018255.4

p.R462P

c.1385G>C

6 papers

NM_018255.4

p.R462L

c.1385G>T

NM_001242875.3

p.R527L

c.1580G>T

1 paper

NM_018255.4

p.Q480R

c.1439A>G

2 papers

NM_018255.4

p.T405I

c.1214C>T

1 paper

NM_018255.4

p.P375_R376Splc

c.1126-77G>C

1 paper

NM_018255.4

p.Q489R

c.1466A>G