Varaico: Literature-Extracted Genetic Variants

ELP1

509 papers

RefSeq Summary

The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-...

Pfam Domains

Beta-prop_ELP1_1staa 1–240UCSCELP1 first N-terminal beta-propeller

Beta-prop_ELP1_2ndaa 279–584UCSCELP1 N-terminal second beta-propeller

A-sol_ELP1aa 608–810UCSCELP1 alpha-solenoid

TPR_ELP1aa 817–980UCSCELP1 TPR domain

HB_ELP1aa 989–1159UCSCELP1 three-helix bundle

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 1

HGNC Previous Symbols

DYS; IKBKAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003640.5

p.R226R

c.678A>G

Surrounding Variants

1 paper

NM_003640.5

p.R226*

c.676C>T

1 paper

NM_003640.5

p.W224S

c.671G>C

1 paper

NM_003640.5

p.V223M

c.667G>A

1 paper

NM_003640.5

p.S234N

c.701G>A

1 paper

NM_003640.5

p.A218G

c.653C>G

1 paper

NM_003640.5

p.E235A

c.704A>C

1 paper

NM_003640.5

p.G217Splc

c.650-6G>A

1 paper

NM_003640.5

p.P242insFs

c.724_725insT

1 paper

NM_003640.5

p.P242P

c.726A>G

1 paper

NM_003640.5

p.A245G

c.734C>G

1 paper

NM_003640.5

p.K247R

c.740A>G

1 paper

NM_003640.5

p.G217Splc

c.649+1G>T