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

2 papers

NM_000051.4

p.L1513L

c.4537C>T

Surrounding Variants

1 paper

NM_000051.4

p.L1513_E1514insTC

c.4537_4541ins6

1 paper

NM_000051.4

p.E1514_N1515del2

c.4540_4544del6

5 papers

NM_000051.4

p.A1512T

c.4534G>A

1 paper

NM_000051.4

p.N1515insFs

c.4544dupA

1 paper

NM_000051.4

p.E1514G

c.4541A>G

1 paper

NM_000051.4

p.E1514D

c.4542A>C

1 paper

NM_000051.4

p.E1514D

c.4542A>T

1 paper

NM_000051.4

p.N1515D

c.4543A>G

1 paper

NM_000051.4

p.N1515fs

c.4543_4544fs

1 paper

NM_000051.4

p.D1511N

c.4531G>A

1 paper

NM_000051.4

p.N1515T

c.4544A>C

1 paper

NM_000051.4

p.K1510M

c.4529A>T