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

5 papers

NM_001031710.3

p.N145D

c.433A>G

Surrounding Variants

5 papers

NM_001031710.3

p.N145Y

c.433A>T

3 papers

NM_001031710.3

p.V141A

c.422T>C

1 paper

NM_001031710.3

p.P128_K131delFs

c.383_392del10

5 papers

NM_001031710.3

p.L118L

c.352C>T

1 paper

NM_001031710.3

p.Q115K

c.343C>A

1 paper

NM_018846.5

p.V37G

c.110T>G

1 paper

NM_001031710.3

p.F83fs

c.247_248fs

1 paper

NM_001031710.3

p.F83fs

c.247_248fs

3 papers

NM_001031710.3

p.E79*

c.235G>T

1 paper

NM_001031710.3

p.M77I

c.231G>C

1 paper

NM_001031710.3

p.G148Splc

c.442+699C>T

1 paper

NM_001031710.3

p.G148Splc

c.442+752A>G