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

1–12 of 330 variants

93 papers

NM_003640.5

p.K735Splc

c.2204+6T>C

45 papers

NM_003640.5

p.R696P

c.2087G>C

17 papers

NM_003640.5

p.P914L

c.2741C>T

14 papers

NM_003640.5

p.P1158L

c.3473C>T

13 papers

NM_003640.5

p.C1072S

c.3214T>A

13 papers

NM_003640.5

p.C1072S

c.3215G>C

10 papers

NM_003640.5

p.I816L

c.2446A>C

9 papers

NM_003640.5

p.I816L

c.2446A>T

7 papers

NM_003640.5

p.I830M

c.2490A>G

6 papers

NM_003640.5

p.G765E

c.2294G>A

5 papers

NM_003640.5

p.R405W

c.1213C>T

4 papers

NM_003640.5

p.P214delFs

c.641delG