Varaico: Literature-Extracted Genetic Variants

Gene:FAM186A
Variant:p.E1598D

FAM186A

178 papers

Pfam Domains

FAM186A-B_Naa 39–281UCSCFAM186A/B, N-terminal
FAM186A_PQQAQaa 1065–1106UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1101–1142UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1137–1178UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1173–1214UCSCFAM186A, PQQAQ repeat
FAM186A_PQQAQaa 1209–1250UCSCFAM186A, PQQAQ repeat

Gene Aliases

HGNC Name

family with sequence similarity 186 member A

HGNC Alias Symbol

LOC121006

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001145475.3
p.E1598D
c.4794A>T
Surrounding Variants
2 papers
NM_001145475.3
p.E1598D
c.4794A>C
1 paper
NM_001145475.3
p.E1598fs
c.4792_4793fs
1 paper
NM_001145475.3
p.L1599L
c.4795C>T
3 papers
NM_001145475.3
p.E1598A
c.4793A>C
5 papers
NM_001145475.3
p.P1602S
c.4804C>T
1 paper
NM_001145475.3
p.P1590S
c.4768C>T
1 paper
NM_001145475.3
p.A1608S
c.4822G>T
1 paper
NM_001145475.3
p.A1608V
c.4823C>T
1 paper
NM_001145475.3
p.A1608ins16
c.4823_4824ins48
1 paper
NM_001145475.3
p.Q1609insFs
c.4826_4827insCA
1 paper
NM_001145475.3
p.L1587Q
c.4760T>A
1 paper
NM_001145475.3
p.E1598_A1610Fs
c.4793_4828delinsTFs
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