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.V595M

c.1783G>A

Surrounding Variants

1 paper

NM_000051.4

p.V595fs

c.1783_1784fs

1 paper

NM_000051.4

p.V595_P596delFs

c.1784_1788del5

1 paper

NM_000051.4

p.V595A

c.1784T>C

1 paper

NM_000051.4

p.P596del1

c.1786_1788delCCT

1 paper

NM_000051.4

p.P596_P597insG

c.1786_1790ins3

1 paper

NM_000051.4

p.P596S

c.1786C>T

1 paper

NM_000051.4

p.E594K

c.1780G>A

1 paper

NM_000051.4

p.E594fs

c.1780_1781fs

4 papers

NM_000051.4

p.E594delFs

c.1782delA

1 paper

NM_000051.4

p.P596_P597delFs

c.1788_1791del4

2 papers

NM_000051.4

p.P597A

c.1789C>G

1 paper

NM_000051.4

p.P597fs

c.1789_1790fs