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.I1792I

c.5376A>T

Surrounding Variants

1 paper

NM_000051.4

p.N1793H

c.5377A>C

1 paper

NM_000051.4

p.N1793D

c.5377A>G

1 paper

NM_000051.4

p.I1792K

c.5375T>A

1 paper

NM_000051.4

p.I1792T

c.5375T>C

1 paper

NM_000051.4

p.N1793S

c.5378A>G

1 paper

NM_000051.4

p.I1792fs

c.5374_5375fs

1 paper

NM_000051.4

p.D1791D

c.5373T>C

3 papers

NM_000051.4

p.L1794M

c.5380C>A

8 papers

NM_000051.4

p.L1794L

c.5380C>T

2 papers

NM_000051.4

p.D1791N

c.5371G>A

2 papers

NM_000051.4

p.D1791fs

c.5371_5372fs

1 paper

NM_000051.4

p.L1794R

c.5381T>G