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.E692insFs

c.2076dupG

Surrounding Variants

1 paper

NM_003640.5

p.R693fs

c.2077_2078fs

1 paper

NM_003640.5

p.K690*

c.2068A>T

45 papers

NM_003640.5

p.R696P

c.2087G>C

1 paper

NM_003640.5

p.R696Q

c.2087G>A

1 paper

NM_003640.5

p.R689Q

c.2066G>A

1 paper

NM_003640.5

p.R689W

c.2065C>T

1 paper

NM_003640.5

p.E686insFs

c.2056dupG

1 paper

NM_003640.5

p.E686fs

c.2056_2057fs

1 paper

NM_003640.5

p.V701V

c.2103G>A

1 paper

NM_003640.5

p.Q703ins1

c.2107_2108insAGG

2 papers

NM_003640.5

p.H681delFs

c.2042_2043delAT

1 paper

NM_003640.5

p.H681fs

c.2041_2042fs