Varaico: Literature-Extracted Genetic Variants

KLHL9

47 papers

RefSeq Summary

This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a comp...

Pfam Domains

BTBaa 40–148UCSCBTB/POZ domain

BACKaa 154–255UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 289–500UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 536–581UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 9

HGNC Alias Symbols

KIAA1354; FLJ13568

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018847.4

p.Y496*

c.1488T>G

Surrounding Variants

1 paper

NM_018847.4

p.Y496*

c.1488T>A

1 paper

NM_018847.4

p.G500V

c.1499G>T

1 paper

NM_018847.4

p.D471G

c.1412A>G

1 paper

NM_018847.4

p.D471N

c.1411G>A

1 paper

NM_018847.4

p.S451*

c.1352C>G

1 paper

NM_018847.4

p.S451*

c.1352C>A

1 paper

NM_018847.4

p.V443I

c.1327G>A

1 paper

NM_018847.4

p.M560I

c.1680G>T

1 paper

NM_018847.4

p.M560I

c.1680G>C

1 paper

NM_018847.4

p.M560I

c.1680G>A

1 paper

NM_018847.4

p.F578S

c.1733T>C

1 paper

NM_018847.4

p.E412delFs

c.1234delC