Varaico: Literature-Extracted Genetic Variants

Gene:KLHL2

KLHL2

34 papers

Pfam Domains

BTBaa 46–153UCSCBTB/POZ domain
BTBaa 46–153UCSCBTB/POZ domain
BACKaa 158–260UCSCBTB And C-terminal Kelch
BACKaa 158–260UCSCBTB And C-terminal Kelch
Kelch_1aa 303–340UCSCKelch motif
Kelch_1aa 342–387UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 2

HGNC Alias Symbol

MAV

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
4 papers
NM_007246.4
p.E88G
c.263A>G
2 papers
NM_007246.4
p.A9A
c.27A>G
1 paper
NM_007246.4
p.M1T
c.2T>C
1 paper
NM_007246.4
p.L6_P7insFs
c.18_19insA
1 paper
NM_007246.4
p.P8L
c.23C>T
1 paper
NM_007246.4
p.T11I
c.32C>T
1 paper
NM_007246.4
p.H38N
c.112C>A
1 paper
NM_007246.4
p.I67V
c.199A>G
1 paper
NM_007246.4
p.S68A
c.202T>G
1 paper
NM_007246.4
p.S68Y
c.203C>A
1 paper
NM_007246.4
p.F81insFs
c.242_243insTG
1 paper
NM_007246.4
p.S90G
c.268A>G
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