Varaico: Literature-Extracted Genetic Variants

Gene:FAM186A
Variant:p.P697L

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
1 paper
NM_001145475.3
p.P697L
c.2090C>T
Surrounding Variants
1 paper
NM_001145475.3
p.M718fs
c.2152_2153fs
1 paper
NM_001145475.3
p.K741fs
c.2221_2222fs
1 paper
NM_001145475.3
p.Q744*
c.2230C>T
1 paper
NM_001145475.3
p.K754fs
c.2260_2261fs
1 paper
NM_001145475.3
p.S636F
c.1907C>T
1 paper
NM_001145475.3
p.K772I
c.2315A>T
1 paper
NM_001145475.3
p.S619R
c.1857C>G
1 paper
NM_001145475.3
p.S619R
c.1857C>A
1 paper
NM_001145475.3
p.S619R
c.1855A>C
1 paper
NM_001145475.3
p.I605I
c.1815A>T
1 paper
NM_001145475.3
p.N789K
c.2367C>G
1 paper
NM_001145475.3
p.N789K
c.2367C>A
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