Varaico: Literature-Extracted Genetic Variants

KLHL20

60 papers

RefSeq Summary

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts ...

Pfam Domains

BTBaa 58–165UCSCBTB/POZ domain

BACKaa 170–272UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 311–498UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_KLHDC2_KLHL20_DRC7aa 401–541UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 543–588UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 20

HGNC Alias Symbols

KLEIP; KHLHX

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

5 papers

NM_014458.4

p.G357R

c.1069G>A

5 papers

NM_014458.4

p.G357R

c.1069G>C

2 papers

NM_014458.4

p.R226C

c.676C>T

1 paper

NM_014458.4

p.M1V

c.1A>G

1 paper

NM_014458.4

p.R13*

c.37C>T

1 paper

NM_014458.4

p.G18R

c.52G>A

1 paper

NM_014458.4

p.G18R

c.52G>C

1 paper

NM_014458.4

p.V21I

c.61G>A

1 paper

NM_014458.4

p.Y45D

c.133T>G

1 paper

NM_014458.4

p.P51L

c.152C>T

1 paper

NM_014458.4

p.R52Q

c.155G>A

1 paper

NM_014458.4

p.L61V

c.181C>G