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.S2546del1

c.7636_7637delTCT

Surrounding Variants

42 papers

NM_000051.4

p.S2546_I2548del3

c.7636_7643del9

1 paper

NM_000051.4

p.I2545fs

c.7633_7634fs

1 paper

NM_000051.4

p.S2546S

c.7638T>C

1 paper

NM_000051.4

p.R2547del1

c.7639_7640delAGA

2 papers

NM_000051.4

p.R2547_S2549del3

c.7639_7646del9

1 paper

NM_000051.4

p.L2544P

c.7631T>C

1 paper

NM_000051.4

p.L2544I

c.7630C>A

1 paper

NM_000051.4

p.R2547K

c.7640G>A

2 papers

NM_000051.4

p.R2547I

c.7640G>T

4 papers

NM_000051.4

p.N2543_L2544Splc

c.7630-1G>A

75 papers

NM_000051.4

p.N2543_L2544Splc

c.7630-2A>C

1 paper

NM_000051.4

p.N2543_L2544Splc

c.7630-2A>G