Varaico: Literature-Extracted Genetic Variants

SAMD4A

70 papers

RefSeq Summary

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recogn...

Pfam Domains

Vts1aa 11–50UCSCRNA-binding protein vts1-like domain

PHAT_SMAUGaa 55–155UCSCSMAUG-like PHAT domain

SAM_1aa 321–381UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 4A

HGNC Previous Symbol

SAMD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015589.6

p.A467D

c.1400C>A

Surrounding Variants

2 papers

NM_015589.6

p.A467_S468insCAG

c.1399_1403ins9

1 paper

NM_015589.6

p.G469_G470insGCG

c.1405_1409ins9

1 paper

NM_015589.6

p.S464S

c.1392G>A

1 paper

NM_015589.6

p.V504Splc

c.1510+1G>A

1 paper

NM_015589.6

p.E426K

c.1276G>A

1 paper

NM_015589.6

p.T424S

c.1271C>G

1 paper

NM_015589.6

p.T424S

c.1270A>T

1 paper

NM_015589.6

p.R401C

c.1201C>T

1 paper

NM_015589.6

p.G397R

c.1189G>A

1 paper

NM_015589.6

p.V504Splc

c.1511-2A>G

1 paper

NM_015589.6

p.E532_A533Splc

c.1596+1G>A

1 paper

NM_015589.6

p.R392_D393Splc

c.1176+4220T>C