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

1 paper

NM_000051.4

p.L726R

c.2177T>G

Surrounding Variants

1 paper

NM_000051.4

p.L726P

c.2177T>C

1 paper

NM_000051.4

p.L726I

c.2176C>A

1 paper

NM_000051.4

p.V725V

c.2175C>T

1 paper

NM_000051.4

p.G727R

c.2179G>C

1 paper

NM_000051.4

p.G727C

c.2179G>T

1 paper

NM_000051.4

p.V725insFs

c.2174dupT

1 paper

NM_000051.4

p.C728S

c.2182T>A

2 papers

NM_000051.4

p.G724V

c.2171G>T

1 paper

NM_000051.4

p.C728delFs

c.2184delC

2 papers

NM_000051.4

p.C728*

c.2184C>A

1 paper

NM_000051.4

p.Y729_M732del4

c.2185_2195del12

7 papers

NM_000051.4

p.G724S

c.2170G>A