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

1 paper

NM_017934.7

p.A1186V

c.3557C>T

Surrounding Variants

1 paper

NM_017934.7

p.P1187T

c.3559C>A

5 papers

NM_017934.7

p.Q1191*

c.3571C>T

1 paper

NM_017934.7

p.A1181G

c.3542C>G

1 paper

NM_017934.7

p.A1181S

c.3541G>T

1 paper

NM_017934.7

p.D1179G

c.3536A>G

3 papers

NM_017934.7

p.V1199delFs

c.3595delC

1 paper

NM_017934.7

p.T1204M

c.3611C>T

2 papers

NM_017934.7

p.Q1211fs

c.3631_3632fs

1 paper

NM_017934.7

p.R1212*

c.3634A>T

1 paper

NM_017934.7

p.R1212I

c.3635G>T

3 papers

NM_017934.7

p.K1210_Q1211delFs

c.3628_3631del4

1 paper

NM_017934.7

p.I1168insFs

c.3502dupA