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

7 papers

NM_000051.4

p.D1080E

c.3240C>G

Surrounding Variants

7 papers

NM_000051.4

p.D1080E

c.3240C>A

2 papers

NM_000051.4

p.D1080V

c.3239A>T

11 papers

NM_000051.4

p.N1081S

c.3242A>G

3 papers

NM_000051.4

p.D1080N

c.3238G>A

2 papers

NM_000051.4

p.D1080Y

c.3238G>T

1 paper

NM_000051.4

p.A1079A

c.3237T>C

1 paper

NM_000051.4

p.D1080_H1083delFs

c.3238_3248del11

1 paper

NM_000051.4

p.H1082N

c.3244C>A

1 paper

NM_000051.4

p.H1082insFs

c.3244_3245insG

9 papers

NM_000051.4

p.H1082fs

c.3244_3245fs

7 papers

NM_000051.4

p.H1082insFs

c.3244_3245insTG

3 papers

NM_000051.4

p.A1079G

c.3236C>G