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

4 papers

NM_020866.3

p.S43T

c.128G>C

Surrounding Variants

3 papers

NM_020866.3

p.S43S

c.129T>C

1 paper

NM_020866.3

p.G42D

c.125G>A

1 paper

NM_020866.3

p.Q39delFs

c.116delT

1 paper

NM_020866.3

p.C37F

c.110G>T

2 papers

NM_020866.3

p.G36R

c.106G>C

1 paper

NM_020866.3

p.P51A

c.151C>G

1 paper

NM_020866.3

p.G35delFs

c.104delC

6 papers

NM_020866.3

p.G34A

c.101G>C

1 paper

NM_020866.3

p.G34W

c.100G>T

1 paper

NM_020866.3

p.G34R

c.100G>C

1 paper

NM_020866.3

p.G34R

c.100G>A

1 paper

NM_020866.3

p.A33A

c.99G>A