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.L950L

c.2850C>T

Surrounding Variants

4 papers

NM_003640.5

p.K952I

c.2855A>T

2 papers

NM_003640.5

p.I947delFs

c.2840delA

1 paper

NM_003640.5

p.G954*

c.2860G>T

1 paper

NM_003640.5

p.G954Splc

c.2860+1G>A

2 papers

NM_003640.5

p.G954Splc

c.2860+2T>C

1 paper

NM_003640.5

p.R942fs

c.2824_2825fs

2 papers

NM_003640.5

p.R942delFs

c.2825delC

1 paper

NM_003640.5

p.R942Q

c.2825G>A

4 papers

NM_003640.5

p.R942*

c.2824C>T

1 paper

NM_003640.5

p.R942fs

c.2824_2825fs

1 paper

NM_003640.5

p.I936T

c.2807T>C

1 paper

NM_003640.5

p.T929fs

c.2785_2786fs