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.K1066fs

c.3196_3197fs

Surrounding Variants

1 paper

NM_000051.4

p.K1066_D1067del2

c.3196_3200del6

1 paper

NM_000051.4

p.K1066K

c.3198A>G

1 paper

NM_000051.4

p.D1067delFs

c.3199delG

5 papers

NM_000051.4

p.G1065E

c.3194G>A

1 paper

NM_000051.4

p.K1066insFs

c.3197dupA

1 paper

NM_000051.4

p.G1065V

c.3194G>T

1 paper

NM_000051.4

p.K1066delFs

c.3198delA

1 paper

NM_000051.4

p.G1065fs

c.3193_3194fs

1 paper

NM_000051.4

p.D1067fs

c.3199_3200fs

2 papers

NM_000051.4

p.D1067Y

c.3199G>T

1 paper

NM_000051.4

p.D1067delFs

c.3200delA

1 paper

NM_000051.4

p.D1067fs

c.3199_3200fs