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

13 papers

NM_003640.5

p.C1072S

c.3214T>A

Surrounding Variants

1 paper

NM_003640.5

p.E1071D

c.3213G>T

13 papers

NM_003640.5

p.C1072S

c.3215G>C

1 paper

NM_003640.5

p.E1071D

c.3213G>C

1 paper

NM_003640.5

p.K1061N

c.3183G>T

1 paper

NM_003640.5

p.K1061N

c.3183G>C

1 paper

NM_003640.5

p.L1052L

c.3154C>T

1 paper

NM_003640.5

p.G1049R

c.3145G>C

1 paper

NM_003640.5

p.G1049S

c.3145G>A

1 paper

NM_003640.5

p.V1034fs

c.3100_3101fs

1 paper

NM_003640.5

p.A1031S

c.3091G>T

1 paper

NM_003640.5

p.W1028*

c.3083G>A

1 paper

NM_003640.5

p.C1025_G1026insFs

c.3075_3076insT