Varaico: Literature-Extracted Genetic Variants

NFKB2

572 papers

RefSeq Summary

This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involv...

Pfam Domains

RHD_DNA_bindaa 40–220UCSCRel homology DNA-binding domain

RHD_dimeraa 229–329UCSCRel homology dimerisation domain

Ankaa 487–521UCSCAnkyrin repeat

Ankaa 526–558UCSCAnkyrin repeat

Ankaa 599–631UCSCAnkyrin repeat

Ankaa 633–666UCSCAnkyrin repeat

Gene Aliases

HGNC Name

nuclear factor kappa B subunit 2

HGNC Alias Symbols

LYT-10; p52; p105; NF-kB2; p49/p100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001322934.2

p.L618V

c.1852C>G

Surrounding Variants

1 paper

NM_001322934.2

p.L619L

c.1855C>T

1 paper

NM_001322934.2

p.L619_V620ins1

c.1857_1858insCAG

1 paper

NM_001322934.2

p.E614Q

c.1840G>C

1 paper

NM_001322934.2

p.R611Q

c.1832G>A

2 papers

NM_001322934.2

p.R611*

c.1831C>T

1 paper

NM_001322934.2

p.E627delFs

c.1879delG

2 papers

NM_001322934.2

p.R609Q

c.1826G>A

1 paper

NM_001322934.2

p.E627A

c.1880A>C

1 paper

NM_001322934.2

p.E630K

c.1888G>A

2 papers

NM_001322934.2

p.P603S

c.1807C>T

1 paper

NM_001322934.2

p.G634fs

c.1900_1901fs

12 papers

NM_001322934.2

p.R635*

c.1903C>T