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

1 paper

NM_001031710.3

p.W316*

c.948G>A

Surrounding Variants

1 paper

NM_001031710.3

p.W316*

c.947G>A

1 paper

NM_001031710.3

p.S315fs

c.943_944fs

1 paper

NM_001031710.3

p.S315delFs

c.944delG

2 papers

NM_001031710.3

p.F323delFs

c.969delT

2 papers

NM_001031710.3

p.F323fs

c.967_968fs

3 papers

NM_001031710.3

p.R326*

c.976C>T

NM_018846.5

p.R278*

c.832C>T

1 paper

NM_001031710.3

p.V332M

c.994G>A

2 papers

NM_001031710.3

p.L341delFs

c.1022delT

1 paper

NM_001031710.3

p.L341fs

c.1021_1022fs

2 papers

NM_001031710.3

p.L341fs

c.1021_1022fs

4 papers

NM_001031710.3

p.R351*

c.1051C>T

5 papers

NM_001031710.3

p.R372Q

c.1115G>A