Varaico: Literature-Extracted Genetic Variants

KLHL3

143 papers

RefSeq Summary

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeat...

Pfam Domains

BTBaa 40–147UCSCBTB/POZ domain

BACKaa 152–254UCSCBTB And C-terminal Kelch

Kelch_1aa 290–334UCSCKelch motif

Kelch_1aa 336–381UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 3

HGNC Alias Symbol

KIAA1129

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_017415.3

p.A340V

c.1019C>T

Surrounding Variants

3 papers

NM_017415.3

p.R336I

c.1007G>T

1 paper

NM_017415.3

p.P334S

c.1000C>T

1 paper

NM_017415.3

p.R326Q

c.977G>A

1 paper

NM_017415.3

p.R326W

c.976C>T

5 papers

NM_017415.3

p.F322C

c.965T>G

1 paper

NM_017415.3

p.A313E

c.938C>A

16 papers

NM_017415.3

p.Q309R

c.926A>G

1 paper

NM_017415.3

p.G308S

c.922G>A

1 paper

NM_017415.3

p.I304T

c.911T>C

1 paper

NM_017415.3

p.V349M

c.1045G>A

1 paper

NM_017415.3

p.V352M

c.1054G>A

2 papers

NM_017415.3

p.R360Q

c.1079G>A