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

Selected Variant

1 paper

NM_014458.4

p.I217T

c.650T>C

Surrounding Variants

2 papers

NM_014458.4

p.R226C

c.676C>T

1 paper

NM_014458.4

p.R226H

c.677G>A

1 paper

NM_014458.4

p.E205fs

c.613_614fs

1 paper

NM_014458.4

p.E204delFs

c.612delA

1 paper

NM_014458.4

p.Q255*

c.763C>T

1 paper

NM_014458.4

p.V271L

c.811G>C

1 paper

NM_014458.4

p.V271L

c.811G>T

1 paper

NM_014458.4

p.R307K

c.920G>A

1 paper

NM_014458.4

p.R315P

c.944G>C

1 paper

NM_014458.4

p.Y338fs

c.1012_1013fs

1 paper

NM_014458.4

p.P340S

c.1018C>T

1 paper

NM_014458.4

p.T342S

c.1024A>T