Varaico: Literature-Extracted Genetic Variants

EIPR1

22 papers

RefSeq Summary

This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Al...

Pfam Domains

Beta-prop_EIPR1aa 4–300UCSCEIPR1 beta-propeller

Beta-prop_EIPR1aa 104–327UCSCEIPR1 beta-propeller

WD40aa 337–374UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

EARP complex and GARP complex interacting protein 1

HGNC Previous Symbol

TSSC1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

1 paper

NM_003310.5

p.R16H

c.47G>A

1 paper

NM_003310.5

p.L31fs

c.91_92fs

1 paper

NM_003310.5

p.L31delFs

c.92delA

1 paper

NM_003310.5

p.G33E

c.98G>A

1 paper

NM_003310.5

p.D50Y

c.148G>T

1 paper

NM_003310.5

p.E66A

c.197A>C

1 paper

NM_003310.5

p.T94I

c.281C>T

1 paper

NM_003310.5

p.T132S

c.394A>T

1 paper

NM_003310.5

p.V140D

c.419T>A

1 paper

NM_003310.5

p.K150E

c.448A>G

1 paper

NM_003310.5

p.S153A

c.457T>G

1 paper

NM_003310.5

p.A155T

c.463G>A