Varaico: Literature-Extracted Genetic Variants

KLHL1

383 papers

RefSeq Summary

The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010].

Pfam Domains

BTBaa 162–248UCSCBTB/POZ domain

BTBaa 202–309UCSCBTB/POZ domain

BACKaa 314–416UCSCBTB And C-terminal Kelch

Kelch_1aa 459–493UCSCKelch motif

Kelch_1aa 495–540UCSCKelch motif

Kelch_1aa 542–587UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 1

HGNC Alias Symbols

KIAA1490; MRP2; FLJ30047

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020866.3

p.T159A

c.475A>G

Surrounding Variants

1 paper

NM_020866.3

p.C163Y

c.488G>A

1 paper

NM_020866.3

p.E151G

c.452A>G

1 paper

NM_020866.3

p.V144L

c.430G>C

1 paper

NM_020866.3

p.H139R

c.416A>G

2 papers

NM_020866.3

p.P131T

c.391C>A

1 paper

NM_020866.3

p.E128K

c.382G>A

1 paper

NM_020866.3

p.F120L

c.360C>G

1 paper

NM_020866.3

p.A107G

c.320C>G

1 paper

NM_020866.3

p.G106E

c.317G>A

1 paper

NM_020866.3

p.G106R

c.316G>A

1 paper

NM_020866.3

p.R102M

c.305G>T

2 papers

NM_020866.3

p.L92Q

c.275T>A