Varaico: Literature-Extracted Genetic Variants

Gene:AKNA
Variant:p.L1167F

AKNA

110 papers

Pfam Domains

AKNAaa 598–696UCSCAT-hook-containing transcription factor

Gene Aliases

HGNC Name

AT-hook transcription factor

HGNC Alias Symbol

KIAA1968

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001317950.2
p.L1167F
c.3499C>T
Surrounding Variants
1 paper
NM_001317950.2
p.R1144_G1145insTAG
c.3430_3434ins9
1 paper
NM_001317950.2
p.S1133Splc
c.3399-33T>G
1 paper
NM_001317950.2
p.L1182Q
c.3545T>A
1 paper
NM_001317950.2
p.S1184P
c.3550T>C
1 paper
NM_001317950.2
p.K1191E
c.3571A>G
1 paper
NM_001317950.2
p.R1216Q
c.3647G>A
4 papers
NM_001317950.2
p.R1119Q
c.3356G>A
1 paper
NM_001317950.2
p.T1104I
c.3311C>T
3 papers
NM_001317950.2
p.Q1097R
c.3290A>G
2 papers
NM_001317950.2
p.H1096P
c.3287A>C
1 paper
NM_001317950.2
p.Q1075K
c.3223C>A
2 papers
NM_001317950.2
p.R1073*
c.3217C>T
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