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.E117K

c.349G>A

Surrounding Variants

1 paper

NM_017415.3

p.E118D

c.354G>T

1 paper

NM_017415.3

p.E118D

c.354G>C

1 paper

NM_017415.3

p.I113F

c.337A>T

4 papers

NM_017415.3

p.T110A

c.328A>G

1 paper

NM_001257194.1

p.T68M

c.203C>T

10 papers

NM_017415.3

p.E85A

c.254A>C

1 paper

NM_017415.3

p.L123_L124ins3

c.369_370ins9

1 paper

NM_017415.3

p.L124L

c.372C>A

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