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.Q447*

c.1339C>T

Surrounding Variants

1 paper

NM_003640.5

p.A444T

c.1330G>A

1 paper

NM_003640.5

p.G454Splc

c.1360+1G>C

1 paper

NM_003640.5

p.D438Y

c.1312G>T

1 paper

NM_003640.5

p.L430*

c.1289T>G

1 paper

NM_003640.5

p.L430*

c.1289T>A

3 papers

NM_003640.5

p.Q426_V427insFs

c.1278_1279ins4

1 paper

NM_003640.5

p.V424E

c.1271T>A

1 paper

NM_003640.5

p.M413insFs

c.1237_1238insA

2 papers

NM_003640.5

p.P410L

c.1229C>T

5 papers

NM_003640.5

p.R405W

c.1213C>T

1 paper

NM_003640.5

p.V403V

c.1209C>A

1 paper

NM_003640.5

p.V401M

c.1201G>A