Varaico: Literature-Extracted Genetic Variants

FAM47C

134 papers

RefSeq Summary

This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011...

Pfam Domains

FAM47aa 1–257UCSCFAM47 family

FAM47aa 255–317UCSCFAM47 family

FAM47aa 305–365UCSCFAM47 family

FAM47aa 366–437UCSCFAM47 family

FAM47aa 427–485UCSCFAM47 family

FAM47aa 483–557UCSCFAM47 family

Gene Aliases

HGNC Name

family with sequence similarity 47 member C

HGNC Previous Name

family with sequence similarity 47, member C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013736.3

p.H773Q

c.2319T>A

Surrounding Variants

1 paper

NM_001013736.3

p.H773Q

c.2319T>G

1 paper

NM_001013736.3

p.L774R

c.2321T>G

1 paper

NM_001013736.3

p.H775L

c.2324A>T

1 paper

NM_001013736.3

p.L778I

c.2332C>A

1 paper

NM_001013736.3

p.R763C

c.2287C>T

1 paper

NM_001013736.3

p.V759A

c.2276T>C

2 papers

NM_001013736.3

p.P791T

c.2371C>A

3 papers

NM_001013736.3

p.L755P

c.2264T>C

1 paper

NM_001013736.3

p.T793S

c.2377A>T

1 paper

NM_001013736.3

p.T793S

c.2378C>G

1 paper

NM_001013736.3

p.R751H

c.2252G>A

1 paper

NM_001013736.3

p.S797S

c.2391C>T