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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFAM1

Variant:p.L112P

NFAM1

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

1 paper

chr22:42411523 A>G

NM_145912.8

p.L112P

c.335T>C

Ig_NFAM1

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

Surrounding Variants

1 paper

chr22:42411409 C>G

NM_145912.8

p.R150T

c.449G>C

Ig_NFAM1

exact variant not in gnomAD6 overlapping SVs

1 paper

chr22:42411706 G>A

NM_145912.8

p.P51L

c.152C>T

Ig_NFAM1

exact variant not in gnomAD6 overlapping SVs

1 paper

chr22:42411712 C>T

NM_145912.8

p.G49D

c.146G>A

Ig_NFAM1

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=11, hom=0)6 overlapping SVs

1 paper

chr22:42409548 C>T

NM_145912.8

p.D151N

c.451G>A

exact variant not in gnomAD6 overlapping SVs

1 paper

chr22:42409530 G>A

NM_145912.8

p.P157S

c.469C>T

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr22:42409474 G>A

NM_145912.8

p.V175V

c.525C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 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."