Varaico: Literature-Extracted Genetic Variants

Gene:TMEM260
Variant:p.R448H

TMEM260

73 papers

Pfam Domains

TMEM260-likeaa 52–215UCSCProtein O-mannosyl-transferase TMEM260-like
TMEM260_2aa 419–482UCSCTMEM260-associated domain 2

Gene Aliases

HGNC Name

transmembrane protein 260

HGNC Previous Symbol

C14orf101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017799.4
p.R448H
c.1343G>A
Surrounding Variants
2 papers
NM_017799.4
p.R448C
c.1342C>T
2 papers
NM_017799.4
p.L447fs
c.1339_1340fs
3 papers
NM_017799.4
p.L447fs
c.1339_1340fs
1 paper
NM_017799.4
p.S446F
c.1337C>T
3 papers
NM_017799.4
p.S446_L447delFs
c.1336_1339del4
3 papers
NM_017799.4
p.C453R
c.1357T>C
1 paper
NM_017799.4
p.C453C
c.1359T>C
10 papers
NM_017799.4
p.Q465*
c.1393C>T
1 paper
NM_017799.4
p.E378fs
c.1132_1133fs
1 paper
NM_017799.4
p.S377insFs
c.1131dupT
1 paper
NM_017799.4
p.V364A
c.1091T>C
1 paper
NM_017799.4
p.F356L
c.1068C>A
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