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.V2766del1

c.8296_8297delGTT

Surrounding Variants

3 papers

NM_000051.4

p.G2765D

c.8294G>A

1 paper

NM_000051.4

p.G2765A

c.8294G>C

2 papers

NM_000051.4

p.G2765V

c.8294G>T

31 papers

NM_000051.4

p.G2765S

c.8293G>A

3 papers

NM_000051.4

p.G2765C

c.8293G>T

3 papers

NM_000051.4

p.V2766I

c.8296G>A

1 paper

NM_000051.4

p.V2766delFs

c.8297delT

1 paper

NM_000051.4

p.V2766G

c.8297T>G

2 papers

NM_000051.4

p.S2764fs

c.8290_8291fs

6 papers

NM_000051.4

p.S2764_G2765delFs

c.8292_8293delTG

1 paper

NM_000051.4

p.S2764fs

c.8290_8291fs

1 paper

NM_000051.4

p.L2767_C2770del4

c.8299_8309del12