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.L1021F

c.3061C>T

Surrounding Variants

1 paper

NM_017934.7

p.T1030A

c.3088A>G

1 paper

NM_017934.7

p.T1030I

c.3089C>T

1 paper

NM_017934.7

p.S1037*

c.3110C>G

1 paper

NM_017934.7

p.S1037*

c.3110C>A

1 paper

NM_017934.7

p.D1047N

c.3139G>A

3 papers

NM_017934.7

p.L1054*

c.3161T>A

3 papers

NM_017934.7

p.L1054delFs

c.3161delA

1 paper

NM_017934.7

p.A1061T

c.3181G>A

1 paper

NM_017934.7

p.A1061E

c.3182C>A

1 paper

NM_017934.7

p.R1065*

c.3193C>T

1 paper

NM_017934.7

p.I1068delFs

c.3202delT

1 paper

NM_017934.7

p.R999Q

c.2996G>A