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.F239L

c.717C>G

Surrounding Variants

1 paper

NM_000051.4

p.F239L

c.717C>A

1 paper

NM_000051.4

p.F239_L240insFs

c.717_718ins8

1 paper

NM_000051.4

p.L240delFs

c.718_719delCT

4 papers

NM_000051.4

p.L240fs

c.718_719fs

1 paper

NM_000051.4

p.L240F

c.718C>T

1 paper

NM_000051.4

p.F239Y

c.716T>A

1 paper

NM_000051.4

p.F239S

c.716T>C

2 papers

NM_000051.4

p.F239C

c.716T>G

10 papers

NM_000051.4

p.F239_L240delFs

c.717_720del4

2 papers

NM_000051.4

p.F239L

c.715T>C

2 papers

NM_000051.4

p.L240P

c.719T>C

1 paper

NM_000051.4

p.F239V

c.715T>G