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

1–12 of 430 variants

9 papers

NM_017934.7

p.R110C

c.328C>T

6 papers

NM_017934.7

p.I307_N308delFs

c.919_923del5

6 papers

NM_017934.7

p.R968*

c.2902C>T

6 papers

NM_017934.7

p.Y1149*

c.3447T>G

6 papers

NM_017934.7

p.Y1149*

c.3447T>A

6 papers

NM_017934.7

p.Y1316*

c.3948C>G

5 papers

NM_017934.7

p.E919_K923del5

c.2755_2768del15

5 papers

NM_017934.7

p.E963G

c.2888A>G

5 papers

NM_017934.7

p.Q1191*

c.3571C>T

5 papers

NM_017934.7

p.Q1263E

c.3787C>G

5 papers

NM_017934.7

p.Y1316insFs

c.3947dupA

5 papers

NM_017934.7

p.Y1316*

c.3948C>A