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

3 papers

NM_000051.4

p.F247delFs

c.741delT

Surrounding Variants

5 papers

NM_000051.4

p.F247insFs

c.741dupT

1 paper

NM_000051.4

p.N246N

c.738C>T

2 papers

NM_000051.4

p.N246_F247Fs

c.738_739delinsAFs

2 papers

NM_000051.4

p.N246T

c.737A>C

12 papers

NM_000051.4

p.N246S

c.737A>G

2 papers

NM_000051.4

p.F247L

c.739T>C

1 paper

NM_000051.4

p.I249_R250del0

c.745_750del6

2 papers

NM_000051.4

p.N246fs

c.736_737fs

1 paper

NM_000051.4

p.N246D

c.736A>G

3 papers

NM_000051.4

p.N246Y

c.736A>T

1 paper

NM_000051.4

p.F247Y

c.740T>A

1 paper

NM_000051.4

p.V245_N246insFs

c.735_736insCA