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.N602I

c.1805A>T

Surrounding Variants

1 paper

NM_000051.4

p.N602S

c.1805A>G

1 paper

NM_000051.4

p.N602_F603insG

c.1804_1808ins3

1 paper

NM_000051.4

p.N602D

c.1804A>G

1 paper

NM_000051.4

p.N602fs

c.1804_1805fs

1 paper

NM_000051.4

p.N602_F603insFs

c.1806_1807insA

1 paper

NM_000051.4

p.F603L

c.1807T>C

1 paper

NM_000051.4

p.N602delFs

c.1804_1805delAA

2 papers

NM_000051.4

p.S601Splc

c.1803-1G>C

2 papers

NM_000051.4

p.N602_H605del4

c.1804_1814del12

3 papers

NM_000051.4

p.S601Splc

c.1803-2A>G

1 paper

NM_000051.4

p.S601Splc

c.1803-2A>T

1 paper

NM_000051.4

p.F603L

c.1809T>A