Varaico: Literature-Extracted Genetic Variants

Gene:FAM193A
Variant:p.P862L

FAM193A

36 papers

Pfam Domains

FAM193A_Naa 292–463UCSCFAM193A N-terminal domain
FAM193_Caa 1458–1514UCSCFAM193 family C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 193 member A

HGNC Previous Symbol

C4orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366318.2
p.P862L
c.2585C>T
Surrounding Variants
1 paper
NM_001366318.2
p.D891Y
c.2671G>T
1 paper
NM_001366318.2
p.S904_S905del1
c.2712_2714delATC
1 paper
NM_001366318.2
p.S904_S905del2
c.2710_2714del6
1 paper
NM_001366318.2
p.S908_S909del1
c.2724_2726delCTC
1 paper
NM_001366318.2
p.V926M
c.2776G>A
1 paper
NM_001366318.2
p.N833delFs
c.2497delA
1 paper
NM_001366318.2
p.G823A
c.2468G>C
1 paper
NM_001366318.2
p.N795T
c.2384A>C
1 paper
NM_001366318.2
p.V937M
c.2809G>A
1 paper
NM_001366318.2
p.P1026S
c.3076C>T
1 paper
NM_003704.4
p.G801R
c.2401G>A
1 paper
NM_003704.4
p.G801R
c.2401G>C
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