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

14 papers

NM_003640.5

p.P1158L

c.3473C>T

Surrounding Variants

1 paper

NM_003640.5

p.E1168D

c.3504A>T

1 paper

NM_003640.5

p.E1168D

c.3504A>C

1 paper

NM_003640.5

p.V1173M

c.3517G>A

1 paper

NM_003640.5

p.N1186K

c.3558C>G

1 paper

NM_003640.5

p.N1186K

c.3558C>A

1 paper

NM_003640.5

p.R1188S

c.3564G>T

1 paper

NM_003640.5

p.R1188S

c.3564G>C

3 papers

NM_003640.5

p.A1191Splc

c.3572+1G>A

1 paper

NM_003640.5

p.R1142*

c.3424C>T

1 paper

NM_003640.5

p.A1122T

c.3364G>A

1 paper

NM_003640.5

p.A1116Splc

c.3347-2A>T

1 paper

NM_003640.5

p.S1193delFs

c.3578delG