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

Selected Variant

2 papers

NM_030624.3

p.R532del1

c.1594_1595delTCT

Surrounding Variants

1 paper

NM_030624.3

p.L540Q

c.1619T>A

1 paper

NM_030624.3

p.E518Q

c.1552G>C

1 paper

NM_030624.3

p.P565T

c.1693C>A

1 paper

NM_030624.3

p.P565L

c.1694C>T

1 paper

NM_030624.3

p.E567K

c.1699G>A

1 paper

NM_030624.3

p.N568D

c.1702A>G

2 papers

NM_030624.3

p.V492I

c.1474G>A

1 paper

NM_030624.3

p.D594N

c.1780G>A

1 paper

NM_030624.3

p.R459M

c.1376G>T

1 paper

NM_030624.3

p.C444C

c.1332C>T

1 paper

NM_030624.3

p.N425S

c.1274A>G

1 paper

NM_030624.3

p.E407*

c.1219G>T