Varaico: Literature-Extracted Genetic Variants

NFIL3

56 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein repre...

Pfam Domains

bZIP_2aa 72–125UCSCBasic region leucine zipper

Vert_IL3-reg_TFaa 130–461UCSCVertebrate interleukin-3 regulated transcription factor

Gene Aliases

HGNC Name

nuclear factor, interleukin 3 regulated

HGNC Previous Symbol

IL3BP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

3 papers

NM_005384.3

p.Y423*

c.1269C>G

3 papers

NM_005384.3

p.Y423*

c.1269C>A

2 papers

NM_005384.3

p.M170I

c.510G>T

2 papers

NM_005384.3

p.M170I

c.510G>C

2 papers

NM_005384.3

p.M170I

c.510G>A

2 papers

NM_005384.3

p.S369I

c.1106G>T

1 paper

NM_005384.3

p.K24M

c.71A>T

1 paper

NM_005384.3

p.S30F

c.89C>T

1 paper

NM_005384.3

p.D38V

c.113A>T

1 paper

NM_005384.3

p.L45M

c.133C>A

1 paper

NM_005384.3

p.L46R

c.137T>G

1 paper

NM_005384.3

p.R64W

c.190C>T