Varaico: Literature-Extracted Genetic Variants

IPP

111 papers

RefSeq Summary

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but t...

Pfam Domains

BTBaa 27–134UCSCBTB/POZ domain

BACKaa 139–241UCSCBTB And C-terminal Kelch

Kelch_1aa 332–377UCSCKelch motif

Kelch_KLHDC2_KLHL20_DRC7aa 392–581UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

intracisternal A particle-promoted polypeptide

HGNC Alias Symbol

KLHL27

Papers

RefSeq ID

Protein change

DNA change

1–12 of 71 variants

9 papers

NM_005897.3

p.K264R

c.791A>G

4 papers

NM_005897.3

p.C388fs

c.1162_1163fs

4 papers

NM_005897.3

p.C388delFs

c.1163_1164delAC

2 papers

NM_005897.3

p.V54G

c.161T>G

2 papers

NM_005897.3

p.K284N

c.852G>T

2 papers

NM_005897.3

p.K284N

c.852G>C

2 papers

NM_005897.3

p.R427C

c.1279C>T

1 paper

NM_005897.3

p.D11E

c.33T>A

1 paper

NM_005897.3

p.F14I

c.40T>A

1 paper

NM_005897.3

p.G33G

c.99A>G

1 paper

NM_005897.3

p.A64T

c.190G>A

1 paper

NM_005897.3

p.A64V

c.191C>T