Varaico: Literature-Extracted Genetic Variants

KLHL7

141 papers

RefSeq Summary

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq...

Pfam Domains

BTBaa 34–141UCSCBTB/POZ domain

BACKaa 146–248UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 291–488UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 7

HGNC Alias Symbols

SBBI26; RP42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_001031710.3

p.S150N

c.449G>A

Surrounding Variants

10 papers

NM_001031710.3

p.A153T

c.457G>A

30 papers

NM_001031710.3

p.A153V

c.458C>T

4 papers

NM_001031710.3

p.C158R

c.472T>C

1 paper

NM_001031710.3

p.A165T

c.493G>A

1 paper

NM_001031710.3

p.Q171Q

c.513G>A

1 paper

NM_001031710.3

p.F173L

c.517T>C

1 paper

NM_001031710.3

p.F173L

c.519T>A

1 paper

NM_001031710.3

p.F173L

c.519T>G

1 paper

NM_001031710.3

p.V176F

c.526G>T

1 paper

NM_001031710.3

p.E181K

c.541G>A

1 paper

NM_001031710.3

p.D186G

c.557A>G

1 paper

NM_001031710.3

p.R189*

c.565C>T