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

7 papers

NM_000051.4

p.S2389L

c.7166C>T

Surrounding Variants

5 papers

NM_000051.4

p.S2389*

c.7166C>A

5 papers

NM_000051.4

p.S2389*

c.7166C>G

1 paper

NM_000051.4

p.L2388H

c.7163T>A

1 paper

NM_000051.4

p.A2391_R2392delFs

c.7171_7175del5

1 paper

NM_000051.4

p.L2388I

c.7162C>A

1 paper

NM_000051.4

p.L2388delFs

c.7163delT

1 paper

NM_000051.4

p.L2388fs

c.7162_7163fs

1 paper

NM_000051.4

p.A2391T

c.7171G>A

1 paper

NM_000051.4

p.A2391fs

c.7171_7172fs

1 paper

NM_000051.4

p.A2391S

c.7171G>T

1 paper

NM_000051.4

p.A2391A

c.7173C>T

4 papers

NM_000051.4

p.F2387insFs

c.7159_7160ins4