Varaico: Literature-Extracted Genetic Variants

PHIP

222 papers

RefSeq Summary

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growt...

Pfam Domains

BRWD1_Naa 1–87UCSCBRWD1-like, N-terminal domain

WD40aa 174–211UCSCWD domain, G-beta repeat

WD40aa 215–253UCSCWD domain, G-beta repeat

WD40aa 257–298UCSCWD domain, G-beta repeat

WD40aa 355–393UCSCWD domain, G-beta repeat

WD40aa 456–495UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

PHIP subunit of CUL4-Ring ligase complex

HGNC Alias Symbols

ndrp; BRWD2; RepID; DCAF14; FLJ20705

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017934.7

p.S114Splc

c.340+2T>C

Surrounding Variants

9 papers

NM_017934.7

p.R110C

c.328C>T

3 papers

NM_017934.7

p.R110S

c.328C>A

1 paper

NM_017934.7

p.A103T

c.307G>A

1 paper

NM_017934.7

p.V94A

c.281T>C

1 paper

NM_017934.7

p.S114N

c.341G>A

1 paper

NM_017934.7

p.C79R

c.235T>C

1 paper

NM_017934.7

p.I78L

c.232A>T

1 paper

NM_017934.7

p.P72S

c.214C>T

1 paper

NM_017934.7

p.R68_A71del4

c.202_212del12

1 paper

NM_017934.7

p.A127V

c.380C>T

1 paper

NM_017934.7

p.G131insFs

c.392_393ins4

1 paper

NM_017934.7

p.R132fs

c.394_395fs