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.E2837*

c.8509G>T

Surrounding Variants

2 papers

NM_000051.4

p.E2837K

c.8509G>A

1 paper

NM_000051.4

p.E2837delFs

c.8510delA

2 papers

NM_000051.4

p.E2837G

c.8510A>G

1 paper

NM_000051.4

p.M2836I

c.8508G>A

1 paper

NM_000051.4

p.M2836T

c.8507T>C

1 paper

NM_000051.4

p.K2838fs

c.8512_8513fs

1 paper

NM_000051.4

p.M2836L

c.8506A>C

3 papers

NM_000051.4

p.M2836V

c.8506A>G

1 paper

NM_000051.4

p.M2836L

c.8506A>T

1 paper

NM_000051.4

p.K2838*

c.8512A>T

2 papers

NM_000051.4

p.K2838I

c.8513A>T

3 papers

NM_000051.4

p.C2835*

c.8505C>A