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

1–12 of 138 variants

47 papers

NM_017415.3

p.R528H

c.1583G>A

16 papers

NM_017415.3

p.C164F

c.491G>T

16 papers

NM_017415.3

p.Q309R

c.926A>G

16 papers

NM_017415.3

p.S410L

c.1229C>T

14 papers

NM_017415.3

p.L387P

c.1160T>C

14 papers

NM_017415.3

p.S433N

c.1298G>A

12 papers

NM_017415.3

p.A77E

c.230C>A

11 papers

NM_017415.3

p.M78V

c.232A>G

10 papers

NM_017415.3

p.E85A

c.254A>C

8 papers

NM_017415.3

p.A340V

c.1019C>T

8 papers

NM_017415.3

p.S432N

c.1295G>A

8 papers

NM_017415.3

p.A494T

c.1480G>A