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

6 papers

NM_003640.5

p.G765E

c.2294G>A

Surrounding Variants

1 paper

NM_003640.5

p.G765A

c.2294G>C

1 paper

NM_003640.5

p.K772E

c.2314A>G

1 paper

NM_003640.5

p.D775fs

c.2323_2324fs

1 paper

NM_003640.5

p.I774_D775delFs

c.2322_2325del4

1 paper

NM_003640.5

p.I780L

c.2338A>C

1 paper

NM_003640.5

p.F783insFs

c.2347_2348insT

1 paper

NM_003640.5

p.H758D

c.2272C>G

1 paper

NM_003640.5

p.Y756C

c.2267A>G

1 paper

NM_003640.5

p.M745V

c.2233A>G

93 papers

NM_003640.5

p.K735Splc

c.2204+6T>C

1 paper

NM_003640.5

p.R722*

c.2164C>T

1 paper

NM_003640.5

p.P800A

c.2398C>G