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

1 paper

NM_017415.3

p.P73P

c.219C>A

Surrounding Variants

12 papers

NM_017415.3

p.A77E

c.230C>A

11 papers

NM_017415.3

p.M78V

c.232A>G

2 papers

NM_017415.3

p.M78T

c.233T>C

1 paper

NM_017415.3

p.M53K

c.158T>A

1 paper

NM_017415.3

p.V52fs

c.154_155fs

1 paper

NM_017415.3

p.S45R

c.135T>G

1 paper

NM_017415.3

p.S45R

c.135T>A

1 paper

NM_017415.3

p.S45R

c.133A>C