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.T1024fs

c.3070_3071fs

Surrounding Variants

1 paper

NM_003640.5

p.T1024_C1025delFs

c.3072_3073delAT

4 papers

NM_003640.5

p.L1023L

c.3069G>C

1 paper

NM_003640.5

p.C1025_G1026insFs

c.3075_3076insT

1 paper

NM_003640.5

p.W1028*

c.3083G>A

1 paper

NM_003640.5

p.A1021fs

c.3061_3062fs

1 paper

NM_003640.5

p.S1020delFs

c.3058_3059delGA

1 paper

NM_003640.5

p.A1031S

c.3091G>T

1 paper

NM_003640.5

p.V1034fs

c.3100_3101fs

2 papers

NM_003640.5

p.G1013S

c.3037G>A

1 paper

NM_003640.5

p.R1011H

c.3032G>A

1 paper

NM_003640.5

p.R1011C

c.3031C>T

1 paper

NM_003640.5

p.A1005V

c.3014C>T