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.G1613*

c.4837G>T

Surrounding Variants

1 paper

NM_000051.4

p.G1613R

c.4837G>A

2 papers

NM_000051.4

p.G1613A

c.4838G>C

1 paper

NM_000051.4

p.G1613V

c.4838G>T

1 paper

NM_000051.4

p.E1612*

c.4834G>T

1 paper

NM_000051.4

p.L1614R

c.4841T>G

2 papers

NM_000051.4

p.K1615delFs

c.4844delA

2 papers

NM_000051.4

p.L1614_K1615insFs

c.4842_4843insCT

3 papers

NM_000051.4

p.K1615fs

c.4843_4844fs

1 paper

NM_000051.4

p.K1615_D1616delFs

c.4844_4848del5

1 paper

NM_000051.4

p.L1611I

c.4831C>A

1 paper

NM_000051.4

p.K1615T

c.4844A>C

1 paper

NM_000051.4

p.K1615R

c.4844A>G