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

1–12 of 122 variants

30 papers

NM_001031710.3

p.A153V

c.458C>T

10 papers

NM_001031710.3

p.S150N

c.449G>A

10 papers

NM_001031710.3

p.A153T

c.457G>A

6 papers

NM_001031710.3

p.R420C

c.1258C>T

5 papers

NM_001031710.3

p.L118L

c.352C>T

5 papers

NM_001031710.3

p.N145D

c.433A>G

5 papers

NM_001031710.3

p.N145Y

c.433A>T

5 papers

NM_001031710.3

p.R372Q

c.1115G>A

4 papers

NM_001031710.3

p.C158R

c.472T>C

4 papers

NM_001031710.3

p.R351*

c.1051C>T

4 papers

NM_001031710.3

p.C421S

c.1261T>A

4 papers

NM_001031710.3

p.C421S

c.1262G>C