Varaico: Literature-Extracted Genetic Variants

Gene:FAM186B
Variant:p.E129K

FAM186B

51 papers

RefSeq Summary

This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009].

Pfam Domains

FAM186A-B_Naa 7–256UCSCFAM186A/B, N-terminal
FAM186A-B_Caa 659–892UCSCFAM186A/B, C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 186 member B

HGNC Previous Symbol

C12orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032130.3
p.E129K
c.385G>A
Surrounding Variants
1 paper
NM_032130.3
p.E123K
c.367G>A
1 paper
NM_032130.3
p.R166fs
c.496_497fs
1 paper
NM_032130.3
p.R166delFs
c.496delT
5 papers
NM_032130.3
p.W107C
c.321G>T
5 papers
NM_032130.3
p.W107C
c.321G>C
1 paper
NM_032130.3
p.R51H
c.152G>A
1 paper
NM_032130.3
p.E32E
c.96G>A
1 paper
NM_032130.3
p.L20delFs
c.58delG
1 paper
NM_032130.3
p.A17S
c.49G>T
1 paper
NM_032130.3
p.D5H
c.13G>C
1 paper
NM_032130.3
p.V169Splc
c.506-2A>G
1 paper
NM_032130.3
p.T213M
c.638C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."