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

1–12 of 192 variants

51 papers

NM_020866.3

p.D8D

c.24C>T

12 papers

NM_020866.3

p.M174T

c.521T>C

6 papers

NM_020866.3

p.G34A

c.101G>C

6 papers

NM_020866.3

p.N484Y

c.1450A>T

4 papers

NM_020866.3

p.S43T

c.128G>C

4 papers

NM_020866.3

p.A412A

c.1236T>C

3 papers

NM_020866.3

p.S43S

c.129T>C

3 papers

NM_020866.3

p.S73F

c.218C>T

3 papers

NM_020866.3

p.T175A

c.523A>G

3 papers

NM_020866.3

p.R495G

c.1483A>G

2 papers

NM_020866.3

p.S4C

c.11C>G

2 papers

NM_020866.3

p.G36R

c.106G>C