Varaico: Literature-Extracted Genetic Variants

Gene:FAM186B
Variant:p.R545W

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
1 paper
NM_032130.3
p.R545W
c.1633C>T
Surrounding Variants
1 paper
NM_032130.3
p.V535delFs
c.1603delC
1 paper
NM_032130.3
p.V535fs
c.1603_1604fs
1 paper
NM_032130.3
p.W566C
c.1698G>T
1 paper
NM_032130.3
p.W566C
c.1698G>C
1 paper
NM_032130.3
p.R503W
c.1507C>T
1 paper
NM_032130.3
p.R591W
c.1771A>T
1 paper
NM_032130.3
p.H593Y
c.1777C>T
1 paper
NM_032130.3
p.R486Q
c.1457G>A
1 paper
NM_032130.3
p.F616C
c.1847T>G
1 paper
NM_032130.3
p.R623H
c.1868G>A
1 paper
NM_032130.3
p.R624*
c.1870C>T
3 papers
NM_032130.3
p.F457V
c.1369T>G
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