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.P167_S168ins1

c.501_502insAAA

Surrounding Variants

1 paper

NM_014458.4

p.A156D

c.467C>A

1 paper

NM_014458.4

p.H180Y

c.538C>T

1 paper

NM_014458.4

p.E184Q

c.550G>C

1 paper

NM_014458.4

p.L147fs

c.439_440fs

1 paper

NM_014458.4

p.C146S

c.437G>C

1 paper

NM_014458.4

p.L147_Q149delFs

c.439_445del7

1 paper

NM_014458.4

p.C146S

c.436T>A

1 paper

NM_014458.4

p.A145fs

c.433_434fs

1 paper

NM_014458.4

p.A145insFs

c.433_434ins7

1 paper

NM_014458.4

p.F192L

c.574T>C

1 paper

NM_014458.4

p.F192L

c.576C>A

1 paper

NM_014458.4

p.F192L

c.576C>G