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.E16G

c.47A>G

Surrounding Variants

1 paper

NM_000051.4

p.E16V

c.47A>T

1 paper

NM_000051.4

p.E16E

c.48A>G

1 paper

NM_000051.4

p.E16Q

c.46G>C

1 paper

NM_000051.4

p.E16insFs

c.48dupA

2 papers

NM_000051.4

p.E16*

c.46G>T

1 paper

NM_000051.4

p.E16fs

c.46_47fs

1 paper

NM_000051.4

p.E16_H17delFs

c.47_50del4

1 paper

NM_000051.4

p.L15_E16insFs

c.45_46ins11

1 paper

NM_000051.4

p.E16delFs

c.46delG

3 papers

NM_000051.4

p.H17N

c.49C>A

1 paper

NM_000051.4

p.H17fs

c.49_50fs

1 paper

NM_000051.4

p.H17Y

c.49C>T