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

2 papers

NM_000051.4

p.E1182Q

c.3544G>C

Surrounding Variants

2 papers

NM_000051.4

p.E1182_N1183delFs

c.3546_3547delGA

1 paper

NM_000051.4

p.N1183insFs

c.3548dupA

1 paper

NM_000051.4

p.K1181fs

c.3541_3542fs

1 paper

NM_000051.4

p.K1181E

c.3541A>G

6 papers

NM_000051.4

p.K1181*

c.3541A>T

3 papers

NM_000051.4

p.N1183fs

c.3547_3548fs

1 paper

NM_000051.4

p.N1183S

c.3548A>G

2 papers

NM_000051.4

p.K1181delFs

c.3542_3543delAA

2 papers

NM_000051.4

p.N1183N

c.3549T>C

2 papers

NM_000051.4

p.V1180M

c.3538G>A

1 paper

NM_000051.4

p.V1180fs

c.3538_3539fs

1 paper

NM_000051.4

p.V1180fs

c.3538_3539fs