Varaico: Literature-Extracted Genetic Variants

Gene:TCAF2
Variant:p.H427Q

TCAF2

33 papers

Pfam Domains

TCAF_Naa 1–126UCSCTRPM8, N-terminal domain
TCAF_Naa 3–169UCSCTRPM8, N-terminal domain
TCAF_helicalaa 130–231UCSCTCAF all helical domain
TCAF_Naa 162–407UCSCTRPM8, N-terminal domain
M60-like_Naa 241–351UCSCN-terminal domain of M60-like peptidases
Peptidase_M60aa 352–558UCSCPeptidase M60, enhancin and enhancin-like

Gene Aliases

HGNC Name

TRPM8 channel associated factor 2

HGNC Previous Symbols

FAM139A; FAM115C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001363538.2
p.H427Q
c.1281C>G
Surrounding Variants
1 paper
NM_001363538.2
p.H427Q
c.1281C>A
1 paper
NM_001363538.2
p.E428A
c.1283A>C
1 paper
NM_001363538.2
p.S419fs
c.1255_1256fs
1 paper
NM_001363538.2
p.S419_Q420delFs
c.1257_1258delTC
1 paper
NM_001363538.2
p.V442F
c.1324G>T
1 paper
NM_001363538.2
p.M409_R410del2
c.1225_1229del6
1 paper
NM_001363538.2
p.R479Q
c.1436G>A
1 paper
NM_001363538.2
p.Y488C
c.1463A>G
1 paper
NM_001363538.2
p.A491A
c.1473G>C
1 paper
NM_001363538.2
p.Q362H
c.1086G>T
1 paper
NM_001363538.2
p.D341Y
c.1021G>T
1 paper
NM_001363538.2
p.L327L
c.981G>C
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