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

3 papers

NM_000051.4

p.N1094fs

c.3280_3281fs

Surrounding Variants

1 paper

NM_000051.4

p.N1094insFs

c.3280_3281ins4

5 papers

NM_000051.4

p.N1094fs

c.3280_3281fs

7 papers

NM_000051.4

p.N1094S

c.3281A>G

1 paper

NM_000051.4

p.I1093I

c.3279C>A

3 papers

NM_000051.4

p.N1094delFs

c.3281delA

1 paper

NM_000051.4

p.N1094delFs

c.3280_3281delAA

1 paper

NM_000051.4

p.I1093delFs

c.3279delC

1 paper

NM_000051.4

p.I1093insFs

c.3277_3278insG

1 paper

NM_000051.4

p.I1093fs

c.3277_3278fs

3 papers

NM_000051.4

p.I1093V

c.3277A>G

1 paper

NM_000051.4

p.R1095G

c.3283A>G

1 paper

NM_000051.4

p.I1093fs

c.3277_3278fs