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.A1812delFs

c.5435delC

Surrounding Variants

2 papers

NM_000051.4

p.A1812fs

c.5434_5435fs

2 papers

NM_000051.4

p.A1812D

c.5435C>A

5 papers

NM_000051.4

p.L1814insFs

c.5441_5442insT

14 papers

NM_000051.4

p.A1812V

c.5435C>T

9 papers

NM_000051.4

p.L1814delFs

c.5441delT

2 papers

NM_000051.4

p.C1811Y

c.5432G>A

1 paper

NM_000051.4

p.C1811S

c.5432G>C

1 paper

NM_000051.4

p.C1811S

c.5431T>A

1 paper

NM_000051.4

p.F1813L

c.5437T>C

1 paper

NM_000051.4

p.T1810T

c.5430T>G

1 paper

NM_000051.4

p.F1813C

c.5438T>G

1 paper

NM_000051.4

p.T1810S

c.5429C>G