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

7 papers

NM_003640.5

p.I830M

c.2490A>G

Surrounding Variants

2 papers

NM_003640.5

p.P832L

c.2495C>T

2 papers

NM_003640.5

p.H833insFs

c.2499dupT

1 paper

NM_003640.5

p.I816fs

c.2446_2447fs

1 paper

NM_003640.5

p.I816insFs

c.2446_2447insA

9 papers

NM_003640.5

p.I816L

c.2446A>T

10 papers

NM_003640.5

p.I816L

c.2446A>C

1 paper

NM_003640.5

p.K815T

c.2444A>C

2 papers

NM_003640.5

p.P811R

c.2432C>G

1 paper

NM_003640.5

p.Y806C

c.2417A>G

1 paper

NM_003640.5

p.P800A

c.2398C>G

1 paper

NM_003640.5

p.K834*

c.2500A>T

2 papers

NM_003640.5

p.T848N

c.2543C>A