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

2 papers

NM_000051.4

p.E1991delFs

c.5972delA

Surrounding Variants

1 paper

NM_000051.4

p.E1991K

c.5971G>A

13 papers

NM_000051.4

p.E1991insFs

c.5972_5973insA

5 papers

NM_000051.4

p.E1991fs

c.5971_5972fs

8 papers

NM_000051.4

p.E1991*

c.5971G>T

2 papers

NM_000051.4

p.E1991G

c.5972A>G

6 papers

NM_000051.4

p.E1991D

c.5973A>C

5 papers

NM_000051.4

p.E1991D

c.5973A>T

1 paper

NM_000051.4

p.K1992fs

c.5974_5975fs

2 papers

NM_000051.4

p.S1990C

c.5968A>T

23 papers

NM_000051.4

p.S1993_E1995delFs

c.5979_5983del5

1 paper

NM_000051.4

p.S1990delFs

c.5969delG

1 paper

NM_000051.4

p.S1990fs

c.5968_5969fs