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

1–12 of 45 variants

8 papers

NM_018847.4

p.L95F

c.283C>T

2 papers

NM_018847.4

p.C266R

c.796T>C

2 papers

NM_018847.4

p.R318Q

c.953G>A

1 paper

NM_018847.4

p.C19delFs

c.56_57delAC

1 paper

NM_018847.4

p.P56_G57del2

c.166_170del6

1 paper

NM_018847.4

p.D60Y

c.178G>T

1 paper

NM_018847.4

p.P64T

c.190C>A

1 paper

NM_018847.4

p.H96Y

c.286C>T

1 paper

NM_018847.4

p.N121S

c.362A>G

1 paper

NM_018847.4

p.P136S

c.406C>T

1 paper

NM_018847.4

p.N165I

c.494A>T

1 paper

NM_018847.4

p.L166I

c.496C>A