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.D1305H

c.3913G>C

Surrounding Variants

1 paper

NM_000051.4

p.D1305N

c.3913G>A

1 paper

NM_000051.4

p.R1304R

c.3912A>G

2 papers

NM_000051.4

p.R1304K

c.3911G>A

1 paper

NM_000051.4

p.R1304fs

c.3910_3911fs

1 paper

NM_000051.4

p.S1306R

c.3916A>C

1 paper

NM_000051.4

p.T1303T

c.3909C>G

1 paper

NM_000051.4

p.S1306R

c.3918T>A

1 paper

NM_000051.4

p.S1306R

c.3918T>G

3 papers

NM_000051.4

p.G1307delFs

c.3921delG

1 paper

NM_000051.4

p.T1303A

c.3907A>G

8 papers

NM_000051.4

p.G1307R

c.3919G>A

8 papers

NM_000051.4

p.G1307R

c.3919G>C