Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

129 papers

NM_000051.4

p.D1853V

c.5558A>T

Surrounding Variants

310 papers

NM_000051.4

p.D1853N

c.5557G>A

1 paper

NM_000051.4

p.D1853insFs

c.5558dupA

1 paper

NM_000051.4

p.D1853fs

c.5557_5558fs

2 papers

NM_000051.4

p.Q1852_D1853delins

c.5556_5557delinsGA

1 paper

NM_000051.4

p.Q1852R

c.5555A>G

1 paper

NM_000051.4

p.T1854R

c.5561C>G

2 papers

NM_000051.4

p.T1854I

c.5561C>T

3 papers

NM_000051.4

p.Q1852K

c.5554C>A

1 paper

NM_000051.4

p.Q1852fs

c.5554_5555fs

12 papers

NM_000051.4

p.Q1852*

c.5554C>T

1 paper

NM_000051.4

p.Q1852fs

c.5554_5555fs

1 paper

NM_000051.4

p.N1855D

c.5563A>G