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.L124L

c.372C>A

Surrounding Variants

1 paper

NM_017415.3

p.L123_L124ins3

c.369_370ins9

1 paper

NM_017415.3

p.S128N

c.383G>A

5 papers

NM_017415.3

p.L129*

c.386T>A

2 papers

NM_017415.3

p.Q144*

c.430C>T

1 paper

NM_017415.3

p.H148Q

c.444T>A

1 paper

NM_017415.3

p.A157V

c.470C>T

1 paper

NM_017415.3

p.A157A

c.471A>G

1 paper

NM_017415.3

p.A157delins

c.470_471delinsTG

1 paper

NM_017415.3

p.D160Y

c.478G>T

16 papers

NM_017415.3

p.C164F

c.491G>T

1 paper

NM_017415.3

p.A171V

c.512C>T

1 paper

NM_017415.3

p.A175S

c.523G>T