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.L2447fs

c.7339_7340fs

Surrounding Variants

1 paper

NM_000051.4

p.L2447fs

c.7339_7340fs

1 paper

NM_000051.4

p.L2447*

c.7340T>A

2 papers

NM_000051.4

p.L2447S

c.7340T>C

3 papers

NM_000051.4

p.L2447W

c.7340T>G

1 paper

NM_000051.4

p.L2447_D2448delFs

c.7341_7342delGG

1 paper

NM_000051.4

p.E2446insFs

c.7338dupG

1 paper

NM_000051.4

p.E2446G

c.7337A>G

1 paper

NM_000051.4

p.E2446V

c.7337A>T

1 paper

NM_000051.4

p.L2447L

c.7341G>A

4 papers

NM_000051.4

p.L2447F

c.7341G>C

4 papers

NM_000051.4

p.L2447F

c.7341G>T

10 papers

NM_000051.4

p.D2448N

c.7342G>A