Varaico: Literature-Extracted Genetic Variants

Gene:EFHB
Variant:p.T384K

EFHB

62 papers

Pfam Domains

EF-hand_7aa 563–626UCSCEF-hand domain pair
EF-hand_7aa 563–626UCSCEF-hand domain pair
EF-hand_EFHB_Caa 750–824UCSCEFHB C-terminal EF-hand domain

Gene Aliases

HGNC Name

EF-hand domain family member B

HGNC Alias Symbol

FLJ25200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144715.4
p.T384K
c.1151C>A
Surrounding Variants
1 paper
NM_144715.4
p.T382I
c.1145C>T
3 papers
NM_144715.4
p.V331I
c.991G>A
2 papers
NM_144715.4
p.S330_V331delins
c.990_991delinsGA
1 paper
NM_144715.4
p.R326S
c.978A>T
1 paper
NM_144715.4
p.R326S
c.978A>C
1 paper
NM_144715.4
p.Q316delFs
c.946delG
1 paper
NM_144715.4
p.Y309Y
c.927C>T
1 paper
NM_144715.4
p.L278delFs
c.833delA
1 paper
NM_144715.4
p.C277*
c.831C>A
1 paper
NM_144715.4
p.P269S
c.805C>T
1 paper
NM_144715.4
p.A264S
c.790G>T
1 paper
NM_144715.4
p.A429fs
c.1285_1286fs
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