Varaico: Literature-Extracted Genetic Variants

Gene:EFHB
Variant:p.K629N

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.K629N
c.1887A>T
Surrounding Variants
1 paper
NM_144715.4
p.K629N
c.1887A>C
1 paper
NM_144715.4
p.L626F
c.1876C>T
1 paper
NM_144715.4
p.D614Y
c.1840G>T
1 paper
NM_144715.4
p.D614H
c.1840G>C
1 paper
NM_144715.4
p.D607Y
c.1819G>T
1 paper
NM_144715.4
p.S691T
c.2072G>C
1 paper
NM_144715.4
p.S714F
c.2141C>T
1 paper
NM_144715.4
p.R726Q
c.2177G>A
1 paper
NM_144715.4
p.A731S
c.2191G>T
2 papers
NM_144715.4
p.R733Q
c.2198G>A
1 paper
NM_144715.4
p.R735H
c.2204G>A
1 paper
NM_144715.4
p.R736H
c.2207G>A
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