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

4 papers

NM_003640.5

p.P214delFs

c.641delG

Surrounding Variants

3 papers

NM_003640.5

p.P214fs

c.640_641fs

1 paper

NM_003640.5

p.T216A

c.646A>G

2 papers

NM_003640.5

p.G217R

c.649G>A

1 paper

NM_003640.5

p.G217Splc

c.649+1G>T

1 paper

NM_003640.5

p.S210G

c.628A>G

2 papers

NM_003640.5

p.G204*

c.610G>T

1 paper

NM_003640.5

p.R201Q

c.602G>A

1 paper

NM_003640.5

p.P190T

c.568C>A

1 paper

NM_003640.5

p.G217Splc

c.650-6G>A

1 paper

NM_003640.5

p.A218G

c.653C>G

1 paper

NM_003640.5

p.V223M

c.667G>A

1 paper

NM_003640.5

p.W224S

c.671G>C