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.S1409F

c.4226C>T

Surrounding Variants

3 papers

NM_000051.4

p.S1409Y

c.4226C>A

1 paper

NM_000051.4

p.K1410insFs

c.4229dupA

1 paper

NM_000051.4

p.S1409delFs

c.4227delC

1 paper

NM_000051.4

p.K1410Q

c.4228A>C

1 paper

NM_000051.4

p.K1410E

c.4228A>G

1 paper

NM_000051.4

p.L1408L

c.4224T>C

1 paper

NM_000051.4

p.K1410R

c.4229A>G

10 papers

NM_000051.4

p.L1408I

c.4222C>A

1 paper

NM_000051.4

p.L1408V

c.4222C>G

2 papers

NM_000051.4

p.L1408F

c.4222C>T

2 papers

NM_000051.4

p.S1411fs

c.4231_4232fs

2 papers

NM_000051.4

p.S1411fs

c.4231_4232fs