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.L1176V

c.3526C>G

Surrounding Variants

1 paper

NM_000051.4

p.L1176fs

c.3526_3527fs

1 paper

NM_000051.4

p.L1176delFs

c.3527delT

2 papers

NM_000051.4

p.L1176Q

c.3527T>A

1 paper

NM_000051.4

p.L1176P

c.3527T>C

1 paper

NM_000051.4

p.L1176R

c.3527T>G

1 paper

NM_000051.4

p.A1175G

c.3524C>G

1 paper

NM_000051.4

p.A1175V

c.3524C>T

1 paper

NM_000051.4

p.L1176L

c.3528G>A

1 paper

NM_000051.4

p.A1175T

c.3523G>A

1 paper

NM_000051.4

p.A1175fs

c.3523_3524fs

1 paper

NM_000051.4

p.L1176delFs

c.3526delC

1 paper

NM_000051.4

p.A1175fs

c.3523_3524fs