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.A2325_N2326Splc

c.6975+2T>C

Surrounding Variants

3 papers

NM_000051.4

p.A2325A

c.6975G>A

2 papers

NM_000051.4

p.A2325A

c.6975G>C

12 papers

NM_000051.4

p.A2325V

c.6974C>T

1 paper

NM_000051.4

p.A2325fs

c.6973_6974fs

2 papers

NM_000051.4

p.A2325insFs

c.6973_6974insT

1 paper

NM_000051.4

p.A2325_N2326Splc

c.6975+6T>C

1 paper

NM_000051.4

p.A2324T

c.6970G>A

1 paper

NM_000051.4

p.A2324fs

c.6970_6971fs

1 paper

NM_000051.4

p.A2324_A2325ins8

c.6970_6974ins24

2 papers

NM_000051.4

p.C2323Y

c.6968G>A

1 paper

NM_000051.4

p.A2321T

c.6961G>A

2 papers

NM_000051.4

p.D2320G

c.6959A>G