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.K1241N

c.3723G>T

Surrounding Variants

1 paper

NM_003640.5

p.K1241N

c.3723G>C

1 paper

NM_003640.5

p.F1246insFs

c.3738dupT

1 paper

NM_003640.5

p.T1275fs

c.3823_3824fs

1 paper

NM_003640.5

p.L1276fs

c.3826_3827fs

1 paper

NM_003640.5

p.L1276delFs

c.3828delA

1 paper

NM_003640.5

p.T1275_T1277delFs

c.3824_3831del8

2 papers

NM_003640.5

p.D1234Splc

c.3700+1G>A

1 paper

NM_003640.5

p.D1215insFs

c.3643dupG

1 paper

NM_003640.5

p.P1212L

c.3635C>T

1 paper

NM_003640.5

p.G1210D

c.3629G>A

1 paper

NM_003640.5

p.E1201D

c.3603G>T

1 paper

NM_003640.5

p.E1201D

c.3603G>C