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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFAM1

Variant:p.P211T

NFAM1

22q13.2 (UCSC)OMIM GTEx

17 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine...

Pfam Domains

Ig_NFAM1aa 42–150UCSCNFAM1 immunoglobin domain

Gene Aliases

HGNC Name

NFAT activating protein with ITAM motif 1

HGNC Alias Symbol

CNAIP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr22:42397890 G>T

NM_145912.8

p.P211T

c.631C>A

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

chr22:42397947 G>A

NM_145912.8

p.R192W

c.574C>T

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=13, hom=0)7 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."