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.L411L

c.1231T>C

Surrounding Variants

4 papers

NM_020866.3

p.A412A

c.1236T>C

1 paper

NM_020866.3

p.H417Y

c.1249C>T

2 papers

NM_020866.3

p.L419insFs

c.1256_1257insCT

1 paper

NM_020866.3

p.L431I

c.1291C>A

2 papers

NM_020866.3

p.K435Q

c.1303A>C

1 paper

NM_020866.3

p.S448G

c.1342A>G

1 paper

NM_020866.3

p.Y462C

c.1385A>G

2 papers

NM_020866.3

p.G465R

c.1393G>C

2 papers

NM_020866.3

p.G465R

c.1393G>A