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

5 papers

NM_001257194.1

p.R330W

c.988C>T

NM_017415.3

p.R362W

c.1084C>T

Surrounding Variants

4 papers

NM_017415.3

p.V361M

c.1081G>A

2 papers

NM_017415.3

p.R360Q

c.1079G>A

1 paper

NM_017415.3

p.G369_V370ins9

c.1105_1109ins27

1 paper

NM_017415.3

p.G369S

c.1105G>A

1 paper

NM_017415.3

p.V352M

c.1054G>A

1 paper

NM_017415.3

p.V349M

c.1045G>A

7 papers

NM_017415.3

p.R384W

c.1150C>T

1 paper

NM_017415.3

p.R384L

c.1151G>T

6 papers

NM_017415.3

p.R384Q

c.1151G>A

6 papers

NM_017415.3

p.T386A

c.1156A>G

14 papers

NM_017415.3

p.L387P

c.1160T>C

1 paper

NM_017415.3

p.D394G

c.1181A>G