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

1 paper

NM_030624.3

p.L139fs

c.415_416fs

Surrounding Variants

1 paper

NM_030624.3

p.L139_L140delFs

c.417_418delAG

1 paper

NM_030624.3

p.C129S

c.386G>C

1 paper

NM_030624.3

p.T156T

c.468C>T

1 paper

NM_030624.3

p.M109I

c.327G>T

1 paper

NM_030624.3

p.M109I

c.327G>C

1 paper

NM_030624.3

p.M109I

c.327G>A

1 paper

NM_030624.3

p.L105L

c.315T>A

1 paper

NM_030624.3

p.I104S

c.311T>G

1 paper

NM_030624.3

p.V101I

c.301G>A

1 paper

NM_030624.3

p.D185G

c.554A>G

1 paper

NM_030624.3

p.Y91delFs

c.271_272delTA

1 paper

NM_030624.3

p.Y90C

c.269A>G