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

4 papers

NM_001031710.3

p.C421S

c.1262G>C

Surrounding Variants

4 papers

NM_001031710.3

p.C421S

c.1261T>A

6 papers

NM_001031710.3

p.R420C

c.1258C>T

1 paper

NM_001031710.3

p.H423Y

c.1267C>T

1 paper

NM_001031710.3

p.S415delFs

c.1243_1244delAG

1 paper

NM_001031710.3

p.H411N

c.1231C>A

1 paper

NM_001031710.3

p.W410*

c.1229G>A

1 paper

NM_001031710.3

p.G440E

c.1319G>A

1 paper

NM_001031710.3

p.V443I

c.1327G>A

2 papers

NM_001031710.3

p.Y398fs

c.1192_1193fs

2 papers

NM_001031710.3

p.L397_Y398delFs

c.1191_1192delGT

1 paper

NM_001031710.3

p.N394I

c.1181A>T

1 paper

NM_001031710.3

p.C451C

c.1353T>C