Varaico: Literature-Extracted Genetic Variants

Gene:TDRKH
Variant:p.L480delFs

TDRKH

57 papers

Pfam Domains

KH_1aa 54–117UCSCKH domain
KH_1aa 126–192UCSCKH domain
TUDORaa 302–423UCSCTudor domain

Gene Aliases

HGNC Name

tudor and KH domain containing

HGNC Alias Symbol

TDRD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083965.2
p.L480delFs
c.1439_1440delAA
Surrounding Variants
1 paper
NM_001083965.2
p.K478_K479Splc
c.1435-2A>G
1 paper
NM_001083965.2
p.A492T
c.1474G>A
1 paper
NM_001083965.2
p.L495R
c.1484T>G
1 paper
NM_001083965.2
p.E438K
c.1312G>A
1 paper
NM_001083965.2
p.S521N
c.1562G>A
1 paper
NM_001083965.2
p.T525fs
c.1573_1574fs
1 paper
NM_001083965.2
p.T525delFs
c.1574_1575delAG
1 paper
NM_001083965.2
p.R403T
c.1208G>C
1 paper
NM_001083965.2
p.G377S
c.1129G>A
1 paper
NM_001083965.2
p.R374Q
c.1121G>A
1 paper
NM_001083965.2
p.A362V
c.1085C>T
1 paper
NM_001083965.2
p.V354M
c.1060G>A
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