Varaico: Literature-Extracted Genetic Variants

KLHL15

40 papers

RefSeq Summary

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain a...

Pfam Domains

BTBaa 21–128UCSCBTB/POZ domain

BACKaa 133–237UCSCBTB And C-terminal Kelch

Kelch_1aa 368–411UCSCKelch motif

Kelch_1aa 477–529UCSCKelch motif

Kelch_1aa 531–572UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 15

HGNC Alias Symbol

KIAA1677

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

3 papers

NM_030624.3

p.Y394fs

c.1180_1181fs

2 papers

NM_030624.3

p.I195T

c.584T>C

2 papers

NM_030624.3

p.V492I

c.1474G>A

2 papers

NM_030624.3

p.R532del1

c.1594_1595delTCT

1 paper

NM_030624.3

p.M1fs

c.1_2fs

1 paper

NM_030624.3

p.E6*

c.16G>T

1 paper

NM_030624.3

p.C9S

c.26G>C

1 paper

NM_030624.3

p.C9Y

c.26G>A

1 paper

NM_030624.3

p.T15T

c.45C>T

1 paper

NM_030624.3

p.A19T

c.55G>A

1 paper

NM_030624.3

p.L31F

c.91C>T

1 paper

NM_030624.3

p.D32A

c.95A>C