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.A494T

c.1480G>A

Surrounding Variants

1 paper

NM_017415.3

p.Y493H

c.1477T>C

1 paper

NM_017415.3

p.Y493N

c.1477T>A

1 paper

NM_017415.3

p.T495R

c.1484C>G

2 papers

NM_017415.3

p.G490R

c.1468G>C

2 papers

NM_017415.3

p.G490R

c.1468G>A

5 papers

NM_017415.3

p.H498Y

c.1492C>T

1 paper

NM_017415.3

p.H498R

c.1493A>G

1 paper

NM_017415.3

p.L488P

c.1463T>C

4 papers

NM_017415.3

p.G500V

c.1499G>T

2 papers

NM_017415.3

p.P501T

c.1501C>A

1 paper

NM_001257194.1

p.V453I

c.1357G>A

1 paper

NM_017415.3

p.P512fs

c.1534_1535fs