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.L1327fs

c.3979_3980fs

Surrounding Variants

2 papers

NM_000051.4

p.L1327V

c.3979T>G

2 papers

NM_000051.4

p.N1326K

c.3978C>A

2 papers

NM_000051.4

p.N1326K

c.3978C>G

7 papers

NM_000051.4

p.L1327*

c.3980T>A

7 papers

NM_000051.4

p.L1327*

c.3980T>G

1 paper

NM_000051.4

p.N1326_L1327insFs

c.3978_3979ins4

1 paper

NM_000051.4

p.N1326S

c.3977A>G

1 paper

NM_000051.4

p.L1328delFs

c.3982_3983delTT

1 paper

NM_000051.4

p.E1325_N1326insFs

c.3975_3978dup4

1 paper

NM_000051.4

p.E1325V

c.3974A>T

1 paper

NM_000051.4

p.G1329_Q1331delFs

c.3986_3993del8

1 paper

NM_000051.4

p.E1325K

c.3973G>A