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

3 papers

NM_017415.3

p.M427T

c.1280T>C

Surrounding Variants

6 papers

NM_017415.3

p.P426L

c.1277C>T

1 paper

NM_017415.3

p.T429T

c.1287G>A

1 paper

NM_017415.3

p.R430W

c.1288C>T

5 papers

NM_017415.3

p.R431W

c.1291C>T

6 papers

NM_017415.3

p.R431Q

c.1292G>A

8 papers

NM_017415.3

p.S432N

c.1295G>A

1 paper

NM_017415.3

p.S433C

c.1297A>T

7 papers

NM_017415.3

p.S433G

c.1297A>G

14 papers

NM_017415.3

p.S433N

c.1298G>A

2 papers

NM_017415.3

p.V438I

c.1312G>A

1 paper

NM_017415.3

p.V438A

c.1313T>C

16 papers

NM_017415.3

p.S410L

c.1229C>T